ClinVar Miner

List of variants in gene RYR2 reported as uncertain significance by Mayo Clinic Laboratories, Mayo Clinic

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Total variants: 40
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HGVS dbSNP gnomAD frequency
NM_001035.3(RYR2):c.892C>T (p.Arg298Cys) rs551099887 0.00024
NM_001035.3(RYR2):c.8060G>A (p.Ser2687Asn) rs202020477 0.00023
NM_001035.3(RYR2):c.2389G>A (p.Gly797Arg) rs200121281 0.00021
NM_001035.3(RYR2):c.4465T>C (p.Cys1489Arg) rs200450676 0.00014
NM_001035.3(RYR2):c.9190G>A (p.Ala3064Thr) rs375482798 0.00010
NM_001035.3(RYR2):c.5822G>A (p.Arg1941His) rs373600053 0.00007
NM_001035.3(RYR2):c.4596+4C>T rs397516532 0.00006
NM_001035.3(RYR2):c.950T>C (p.Met317Thr) rs367601258 0.00004
NM_001035.3(RYR2):c.982G>A (p.Ala328Thr) rs201669522 0.00004
NM_001035.3(RYR2):c.1092A>C (p.Gln364His) rs763183698 0.00003
NM_001035.3(RYR2):c.3361G>C (p.Gly1121Arg) rs199682282 0.00003
NM_001035.3(RYR2):c.5570C>T (p.Pro1857Leu) rs568198475 0.00003
NM_001035.3(RYR2):c.12091A>G (p.Thr4031Ala) rs755148895 0.00002
NM_001035.3(RYR2):c.10189C>T (p.Arg3397Cys) rs764084155 0.00001
NM_001035.3(RYR2):c.10897G>A (p.Glu3633Lys) rs748501600 0.00001
NM_001035.3(RYR2):c.12023A>G (p.Asn4008Ser) rs1330847491 0.00001
NM_001035.3(RYR2):c.12083C>T (p.Ser4028Leu) rs779666612 0.00001
NM_001035.3(RYR2):c.2863G>A (p.Glu955Lys) rs745798722 0.00001
NM_001035.3(RYR2):c.4626G>A (p.Ala1542=) rs1272771676 0.00001
NM_001035.3(RYR2):c.8879T>C (p.Ile2960Thr) rs759048462 0.00001
NM_001035.3(RYR2):c.893G>A (p.Arg298His) rs754259295 0.00001
NM_001035.3(RYR2):c.9691A>G (p.Met3231Val) rs374899980 0.00001
NM_001035.3(RYR2):c.10043T>G (p.Met3348Arg) rs794728767
NM_001035.3(RYR2):c.10190G>T (p.Arg3397Leu) rs753630324
NM_001035.3(RYR2):c.11383G>A (p.Gly3795Ser)
NM_001035.3(RYR2):c.1211G>C (p.Ser404Thr)
NM_001035.3(RYR2):c.13476+8_13476+11dup rs864309562
NM_001035.3(RYR2):c.1600T>C (p.Tyr534His) rs376007579
NM_001035.3(RYR2):c.1640A>T (p.Asn547Ile)
NM_001035.3(RYR2):c.1666G>A (p.Asp556Asn)
NM_001035.3(RYR2):c.184C>T (p.Leu62Phe) rs794728813
NM_001035.3(RYR2):c.2042A>G (p.His681Arg) rs1344581490
NM_001035.3(RYR2):c.2323G>T (p.Val775Phe)
NM_001035.3(RYR2):c.2930A>T (p.Lys977Met) rs1670046069
NM_001035.3(RYR2):c.4625C>T (p.Ala1542Val)
NM_001035.3(RYR2):c.6170C>T (p.Thr2057Ile) rs1679842104
NM_001035.3(RYR2):c.6706G>A (p.Gly2236Ser) rs1680719186
NM_001035.3(RYR2):c.6827G>T (p.Ser2276Ile) rs1247927726
NM_001035.3(RYR2):c.7378T>C (p.Phe2460Leu)
NM_001035.3(RYR2):c.8545C>T (p.His2849Tyr)

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