ClinVar Miner

List of variants in gene LOC129391106, RYR1 studied for skeletal muscle disorder

Included ClinVar conditions (625):
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Gene type:
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Total variants: 13
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HGVS dbSNP gnomAD frequency
NM_000540.3(RYR1):c.1441-24T>C rs7254832 0.90133
NM_000540.3(RYR1):c.1453A>G (p.Met485Val) rs147723844 0.00033
NM_000540.3(RYR1):c.1475G>A (p.Arg492His) rs901087791 0.00007
NM_000540.3(RYR1):c.1479A>C (p.Leu493=) rs748552245 0.00006
NM_000540.3(RYR1):c.1533C>T (p.Ala511=) rs758172706 0.00002
NM_000540.3(RYR1):c.1518A>G (p.Ala506=) rs1488570862 0.00001
NM_000540.3(RYR1):c.1441-12T>C rs760987340
NM_000540.3(RYR1):c.1441-2A>G
NM_000540.3(RYR1):c.1460T>C (p.Leu487Pro) rs1008860336
NM_000540.3(RYR1):c.1474C>T (p.Arg492Cys) rs199826952
NM_000540.3(RYR1):c.1492A>T (p.Thr498Ser)
NM_000540.3(RYR1):c.1534G>A (p.Glu512Lys) rs118192119
NM_000540.3(RYR1):c.1561C>T (p.Leu521Phe) rs750009277

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