ClinVar Miner

List of variants in gene RYR1 reported by GenomeConnect, ClinGen

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Total variants: 8
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NM_000540.2(RYR1):c.10219G>A (p.Ala3407Thr) rs143533100
NM_000540.2(RYR1):c.3095G>A (p.Arg1032His) rs141942845
NM_000540.2(RYR1):c.3877C>A (p.Pro1293Thr) rs146407179
NM_000540.2(RYR1):c.6478G>A (p.Gly2160Ser) rs143398211
NM_000540.3(RYR1):c.13513G>C (p.Asp4505His) rs150396398
NM_000540.3(RYR1):c.14918C>T (p.Pro4973Leu) rs146876145
NM_000540.3(RYR1):c.3719G>T (p.Gly1240Val)
NM_000540.3(RYR1):c.7025A>G (p.Asn2342Ser) rs147213895

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