ClinVar Miner

List of variants in gene TMEM17 studied for ciliopathy

Included ClinVar conditions (273):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_198276.3(TMEM17):c.306C>A (p.Asn102Lys) rs201339749 0.00001
NM_198276.3(TMEM17):c.302G>T (p.Gly101Val) rs1679952785

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