ClinVar Miner

List of variants in gene combination SYN3, TIMP3 reported as pathogenic for Sorsby fundus dystrophy

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_000362.5(TIMP3):c.484G>T (p.Glu162Ter) rs137853302
NM_000362.5(TIMP3):c.536C>G (p.Ser179Cys) rs137853300
NM_000362.5(TIMP3):c.565G>T (p.Gly189Cys) rs137853301
NM_000362.5(TIMP3):c.572A>G (p.Tyr191Cys) rs137853299
NM_000362.5(TIMP3):c.610A>T (p.Ser204Cys) rs137853298

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