ClinVar Miner

List of variants in gene STN1 studied for congenital vitreoretinal dysplasia

Included ClinVar conditions (23):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_024928.5(STN1):c.743C>G (p.Ser248Cys) rs10786775 0.83755
NM_024928.5(STN1):c.451A>G (p.Thr151Ala) rs2487999 0.83741
NM_024928.5(STN1):c.696G>C (p.Val232=) rs11191853 0.22163
NM_024928.5(STN1):c.582-4G>A rs7097097 0.01832
NM_024928.5(STN1):c.793A>C (p.Ser265Arg) rs74157365 0.00150
NM_024928.5(STN1):c.1100C>T (p.Ala367Val) rs140449924 0.00038
NM_024928.5(STN1):c.398G>A (p.Arg133Gln) rs373606965 0.00001
NM_024928.5(STN1):c.404G>C (p.Arg135Thr) rs1057519583
NM_024928.5(STN1):c.469G>T (p.Asp157Tyr) rs765462548

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