RS137853108 TMEM67

Health Risk Chr 8:93765616 snv stop gained
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What This Variant Does
"[OMIM:?]
Associated Conditions
Joubert syndrome 6
Meckel syndrome
type 3
Joubert syndrome
Meckel-Gruber syndrome
TMEM67-related disorder
RHYNS syndrome
Joubert syndrome and related disorders
6 conditions
Inborn genetic diseases
Joubert syndrome 6
Meckel syndrome
type 3
Joubert syndrome
Meckel-Gruber syndrome
Population Frequencies
gnomAD ALL
100%
Other Variants in TMEM67
rs386834200 rs386834204 rs386834207 rs1554557920 rs137853106 rs386834187 rs137853107 rs756686115 rs199821258 rs267607114
Ask Dr. Hemsworth about this variant