ClinVar Miner

List of variants in gene RYR2 reported as uncertain significance by Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues

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Total variants: 8
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HGVS dbSNP
NM_001035.3(RYR2):c.10241G>A (p.Arg3414Lys) rs1131692324
NM_001035.3(RYR2):c.11234G>T (p.Ser3745Ile)
NM_001035.3(RYR2):c.1918A>G (p.Arg640Gly) rs886041109
NM_001035.3(RYR2):c.2468A>T (p.Tyr823Phe)
NM_001035.3(RYR2):c.5585A>G (p.Asp1862Gly) rs1559117209
NM_001035.3(RYR2):c.6394G>C (p.Val2132Leu) rs1553531684
NM_001035.3(RYR2):c.6520G>T (p.Val2174Phe) rs1131692321
NM_001035.3(RYR2):c.7469T>C (p.Val2490Ala) rs886041112

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