RS121918203 RPGRIP1L

Health Risk Chr 16:53645693 snv stop gained
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What This Variant Does
"[OMIM:?]
Associated Conditions
Meckel syndrome
type 5
RPGRIP1L-related disorder
COACH syndrome 1
Joubert syndrome 7
Joubert syndrome
Meckel-Gruber syndrome
COACH syndrome 3
Meckel syndrome
type 5
RPGRIP1L-related disorder
COACH syndrome 1
Joubert syndrome 7
Joubert syndrome
Meckel-Gruber syndrome
Population Frequencies
gnomAD ALL
100%
Other Variants in RPGRIP1L
rs121918197 rs121918198 rs121918199 rs121918200 rs121918201 rs121918202 rs121918204 rs387906243 rs145665129 rs267607020
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