RS111619594 TMEM67
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What This Variant Does
"[OMIM:?]
Associated Conditions
Bardet-Biedl syndrome 14
modifier of
Nephronophthisis
Meckel syndrome
type 3
Nephronophthisis 11
Joubert syndrome 6
RHYNS syndrome
Joubert syndrome
Meckel-Gruber syndrome
COACH syndrome 1
TMEM67-related disorder
6 conditions
Familial pancreatic carcinoma
Thyroid cancer
Population Frequencies
gnomAD ALL
0%
1kG AFR
99.6%
1kG ALL
99.9%
1kG AMR
100%
1kG EAS
100%
1kG EUR
0.1%
1kG SAS
100%
Other Variants in TMEM67