ClinVar Miner

List of variants in gene RYR3 studied for hereditary skeletal muscle disorder

Included ClinVar conditions (587):
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Total variants: 17
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HGVS dbSNP gnomAD frequency
NM_001036.6(RYR3):c.6835G>A (p.Val2279Met) rs41279210 0.00041
NM_001036.6(RYR3):c.12029G>A (p.Arg4010His) rs202140253 0.00020
NM_001036.6(RYR3):c.8939G>T (p.Arg2980Leu) rs200346049 0.00006
NM_001036.6(RYR3):c.2000A>G (p.Asp667Gly) rs1314283337 0.00004
NM_001036.6(RYR3):c.7855A>G (p.Thr2619Ala) rs201310633 0.00004
NM_001036.6(RYR3):c.6208A>G (p.Met2070Val) rs769938343 0.00003
NM_001036.6(RYR3):c.161C>T (p.Ser54Leu) rs372207437 0.00001
NM_001036.6(RYR3):c.5837C>T (p.Thr1946Met) rs942287498 0.00001
NM_001036.6(RYR3):c.10063C>T (p.Arg3355Trp)
NM_001036.6(RYR3):c.10495C>A (p.Leu3499Met)
NM_001036.6(RYR3):c.11164+1G>A rs549279246
NM_001036.6(RYR3):c.11914G>T (p.Asp3972Tyr)
NM_001036.6(RYR3):c.11G>C (p.Gly4Ala) rs375998723
NM_001036.6(RYR3):c.12785C>A (p.Thr4262Asn)
NM_001036.6(RYR3):c.2371A>T (p.Met791Leu)
NM_001036.6(RYR3):c.4006G>C (p.Ala1336Pro)
NM_001036.6(RYR3):c.4298C>G (p.Thr1433Ser)

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