ClinVar Miner

List of variants in gene combination LOC129391106, RYR1 reported as likely benign for RYR1-Related Disorders

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Total variants: 26
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HGVS dbSNP gnomAD frequency
NM_000540.3(RYR1):c.1453A>G (p.Met485Val) rs147723844 0.00033
NM_000540.3(RYR1):c.1479A>C (p.Leu493=) rs748552245 0.00006
NM_000540.3(RYR1):c.1458C>G (p.Val486=) rs756847004 0.00005
NM_000540.3(RYR1):c.1533C>T (p.Ala511=) rs758172706 0.00002
NM_000540.3(RYR1):c.1441-5C>T rs1353788682 0.00001
NM_000540.3(RYR1):c.1488C>T (p.Tyr496=) rs773507163 0.00001
NM_000540.3(RYR1):c.1518A>G (p.Ala506=) rs1488570862 0.00001
NM_000540.3(RYR1):c.1524G>A (p.Glu508=) rs371014065 0.00001
NM_000540.3(RYR1):c.1441-12T>C rs760987340
NM_000540.3(RYR1):c.1441-15T>C
NM_000540.3(RYR1):c.1441-16A>C
NM_000540.3(RYR1):c.1441-4C>G
NM_000540.3(RYR1):c.1441-5C>G
NM_000540.3(RYR1):c.1441-8C>A rs1425168826
NM_000540.3(RYR1):c.1441-9T>A
NM_000540.3(RYR1):c.1443G>A (p.Gly481=) rs752598324
NM_000540.3(RYR1):c.1443G>T (p.Gly481=)
NM_000540.3(RYR1):c.1458C>T (p.Val486=) rs756847004
NM_000540.3(RYR1):c.1459C>T (p.Leu487=) rs780898260
NM_000540.3(RYR1):c.1461G>C (p.Leu487=)
NM_000540.3(RYR1):c.1491C>T (p.Thr497=)
NM_000540.3(RYR1):c.1497T>G (p.Ala499=) rs1600674708
NM_000540.3(RYR1):c.1506T>C (p.Phe502=) rs1967309351
NM_000540.3(RYR1):c.1509T>C (p.Ala503=) rs997383252
NM_000540.3(RYR1):c.1512G>A (p.Glu504=)
NM_000540.3(RYR1):c.1557T>C (p.Asn519=)

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