ClinVar Miner

List of variants in gene RYR2 reported as pathogenic for not provided

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Total variants: 27
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HGVS dbSNP
NM_001035.3(RYR2):c.11814C>A (p.Ser3938Arg) rs794728704
NM_001035.3(RYR2):c.11836G>A (p.Gly3946Ser) rs794728777
NM_001035.3(RYR2):c.11934G>A (p.Met3978Ile) rs794728826
NM_001035.3(RYR2):c.11965A>C (p.Asn3989His) rs794728779
NM_001035.3(RYR2):c.11965A>G (p.Asn3989Asp) rs794728779
NM_001035.3(RYR2):c.11995A>T (p.Met3999Leu) rs794728780
NM_001035.3(RYR2):c.12271_12272delinsAG (p.Ala4091Arg) rs794728837
NM_001035.3(RYR2):c.12372C>A (p.Ser4124Arg) rs771994461
NM_001035.3(RYR2):c.12470G>A (p.Arg4157Gln) rs794728786
NM_001035.3(RYR2):c.1258C>T (p.Arg420Trp) rs190140598
NM_001035.3(RYR2):c.1259G>A (p.Arg420Gln) rs794728721
NM_001035.3(RYR2):c.13489C>T (p.Arg4497Cys) rs121918600
NM_001035.3(RYR2):c.14251A>C (p.Lys4751Gln) rs794728802
NM_001035.3(RYR2):c.14311G>A (p.Val4771Ile) rs794728804
NM_001035.3(RYR2):c.14704C>T (p.Pro4902Ser) rs794728808
NM_001035.3(RYR2):c.14876G>A (p.Arg4959Gln) rs794728811
NM_001035.3(RYR2):c.184C>T (p.Leu62Phe) rs794728813
NM_001035.3(RYR2):c.506G>A (p.Arg169Gln) rs397516539
NM_001035.3(RYR2):c.506G>T (p.Arg169Leu) rs397516539
NM_001035.3(RYR2):c.5170G>A (p.Glu1724Lys) rs794728740
NM_001035.3(RYR2):c.527G>A (p.Arg176Gln) rs794728708
NM_001035.3(RYR2):c.568A>G (p.Arg190Gly) rs794728814
NM_001035.3(RYR2):c.6737C>T (p.Ser2246Leu) rs121918597
NM_001035.3(RYR2):c.689G>A (p.Gly230Asp) rs794728710
NM_001035.3(RYR2):c.6916G>C (p.Val2306Leu) rs794728746
NM_001035.3(RYR2):c.7189G>T (p.Asp2397Tyr) rs794728755
NM_001035.3(RYR2):c.7202G>T (p.Arg2401Leu) rs794728756

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