ClinVar Miner

List of variants in gene RYR2 reported by Phosphorus, Inc.

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Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_001035.3(RYR2):c.13291G>A (p.Glu4431Lys) rs571985775 0.00028
NM_001035.3(RYR2):c.848+8G>C rs373075790 0.00006
NM_001035.3(RYR2):c.13449A>G (p.Lys4483=) rs1008224442 0.00001
NM_001035.3(RYR2):c.14469T>C (p.Ala4823=) rs1164805007 0.00001
NM_001035.3(RYR2):c.5056C>T (p.Leu1686Phe) rs752684338 0.00001
NM_001035.3(RYR2):c.5298C>T (p.Pro1766=) rs570743152 0.00001
NM_001035.3(RYR2):c.10972A>C (p.Thr3658Pro) rs763304030
NM_001035.3(RYR2):c.13412G>C (p.Gly4471Ala) rs1553325274
NM_001035.3(RYR2):c.14782A>C (p.Lys4928Gln) rs2102956810
NM_001035.3(RYR2):c.14786A>T (p.Asp4929Val) rs2102956841

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