ClinVar Miner

List of variants in gene RYR2 reported as uncertain significance by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

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Total variants: 25
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HGVS dbSNP gnomAD frequency
NM_001035.3(RYR2):c.8162T>C (p.Ile2721Thr) rs201500134 0.00069
NM_001035.3(RYR2):c.3038G>A (p.Arg1013Gln) rs149514924 0.00063
NM_001035.3(RYR2):c.13291G>A (p.Glu4431Lys) rs571985775 0.00028
NM_001035.3(RYR2):c.5294C>G (p.Ser1765Cys) rs564806219 0.00018
NM_001035.3(RYR2):c.2711A>G (p.Tyr904Cys) rs201131315 0.00016
NM_001035.3(RYR2):c.4465T>C (p.Cys1489Arg) rs200450676 0.00014
NM_001035.3(RYR2):c.10680T>A (p.His3560Gln) rs727503404 0.00009
NM_001035.3(RYR2):c.13666G>A (p.Ala4556Thr) rs189345192 0.00003
NM_001035.3(RYR2):c.6158A>G (p.Lys2053Arg) rs771590345 0.00003
NM_001035.3(RYR2):c.1022G>C (p.Gly341Ala) rs565413020 0.00002
NM_001035.3(RYR2):c.4733C>G (p.Pro1578Arg) rs765351308 0.00002
NM_001035.3(RYR2):c.11428C>T (p.Arg3810Ter) rs1446308525 0.00001
NM_001035.3(RYR2):c.1397C>A (p.Pro466Gln) rs967199869 0.00001
NM_001035.3(RYR2):c.2131G>A (p.Glu711Lys) rs1470689668 0.00001
NM_001035.3(RYR2):c.2364C>A (p.Phe788Leu) rs776018906 0.00001
NM_001035.3(RYR2):c.2941A>G (p.Met981Val) rs768893657 0.00001
NM_001035.3(RYR2):c.3154G>A (p.Glu1052Lys) rs1271333166 0.00001
NM_001035.3(RYR2):c.6519G>T (p.Glu2173Asp) rs368920731 0.00001
NM_001035.3(RYR2):c.13666G>C (p.Ala4556Pro) rs189345192
NM_001035.3(RYR2):c.1372G>A (p.Asp458Asn) rs1553458124
NM_001035.3(RYR2):c.3565G>A (p.Glu1189Lys) rs794728732
NM_001035.3(RYR2):c.4361A>G (p.Asp1454Gly) rs752212017
NM_001035.3(RYR2):c.4636C>T (p.Gln1546Ter)
NM_001035.3(RYR2):c.6506A>G (p.Glu2169Gly) rs1064794183
NM_001035.3(RYR2):c.815G>A (p.Arg272His) rs377368967

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