ClinVar Miner

List of variants in gene RYR2 reported as uncertain significance for Inborn genetic diseases

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Total variants: 28
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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.9655G>A (p.Val3219Met) rs371147744 0.00011
NM_001035.3(RYR2):c.4735G>A (p.Val1579Met) rs763389778 0.00008
NM_001035.3(RYR2):c.147G>C (p.Leu49Phe) rs727504508 0.00004
NM_001035.3(RYR2):c.10258G>A (p.Val3420Ile) rs397516497 0.00002
NM_001035.3(RYR2):c.14152-3T>C rs376797615 0.00001
NM_001035.3(RYR2):c.2444C>T (p.Pro815Leu) rs537596448 0.00001
NM_001035.3(RYR2):c.463+6C>T rs397516533 0.00001
NM_001035.3(RYR2):c.569G>A (p.Arg190Lys) rs1237664259 0.00001
NM_001035.3(RYR2):c.7621C>A (p.His2541Asn) rs763814352 0.00001
NM_001035.3(RYR2):c.9454C>T (p.Arg3152Cys) rs181105904 0.00001
NM_001035.3(RYR2):c.11410G>A (p.Asp3804Asn)
NM_001035.3(RYR2):c.12208G>A (p.Ala4070Thr)
NM_001035.3(RYR2):c.12295G>C (p.Ala4099Pro)
NM_001035.3(RYR2):c.13617T>G (p.Ser4539Arg) rs1553327067
NM_001035.3(RYR2):c.13643A>G (p.Asp4548Gly)
NM_001035.3(RYR2):c.2999C>T (p.Ala1000Val)
NM_001035.3(RYR2):c.3116A>G (p.Asp1039Gly)
NM_001035.3(RYR2):c.3158C>T (p.Ala1053Val)
NM_001035.3(RYR2):c.3565G>C (p.Glu1189Gln) rs794728732
NM_001035.3(RYR2):c.4252G>A (p.Asp1418Asn)
NM_001035.3(RYR2):c.4321G>A (p.Val1441Ile)
NM_001035.3(RYR2):c.7620C>A (p.His2540Gln)
NM_001035.3(RYR2):c.8653G>T (p.Asp2885Tyr) rs2148908834
NM_001035.3(RYR2):c.9158T>A (p.Val3053Asp)
NM_001035.3(RYR2):c.9429C>G (p.Ser3143Arg)
NM_001035.3(RYR2):c.9599A>C (p.Asn3200Thr) rs1688433173
NM_001035.3(RYR2):c.9721A>G (p.Met3241Val) rs1408171604

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