ClinVar Miner

List of variants in gene TMEM237 studied for Joubert syndrome 1

Included ClinVar conditions (11):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_001044385.3(TMEM237):c.*258del rs558670305 0.00075
NM_001044385.3(TMEM237):c.*714_*715del rs373844800 0.00014
NM_001044385.3(TMEM237):c.52C>T (p.Arg18Ter) rs199469707 0.00006
NM_001044385.3(TMEM237):c.1024A>G (p.Asn342Asp) rs372686071 0.00004
NM_001044385.3(TMEM237):c.*3513del rs143218667
NM_001044385.3(TMEM237):c.*470_*473del rs886055445
NM_001044385.3(TMEM237):c.62del (p.Pro21fs) rs1574587553
NM_001044385.3(TMEM237):c.870-13_870-12del rs555284377

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