ClinVar Miner

List of variants in gene combination AVEN, RYR3 studied for not provided

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Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_001036.6(RYR3):c.14300-19T>A rs2303310 0.56882
NM_001036.6(RYR3):c.14110G>A (p.Glu4704Lys) rs182257230 0.00733
NM_001036.6(RYR3):c.14280C>T (p.Ile4760=) rs368370540 0.00050
NM_001036.6(RYR3):c.14128G>A (p.Asp4710Asn) rs431825174 0.00003
NM_001036.6(RYR3):c.14218G>C (p.Asp4740His) rs569879011 0.00003
NM_001036.6(RYR3):c.13989A>T (p.Val4663=)
NM_001036.6(RYR3):c.14046T>C (p.Tyr4682=) rs1597080129
NM_001036.6(RYR3):c.14416C>T (p.His4806Tyr) rs2153018158
NM_001036.6(RYR3):c.14466-7G>A rs180882042

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