ClinVar Miner

List of variants in gene RYR1 reported as pathogenic by Genetic Services Laboratory, University of Chicago

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Total variants: 16
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HGVS dbSNP gnomAD frequency
NM_000540.3(RYR1):c.6721C>T (p.Arg2241Ter) rs200563280 0.00013
NM_000540.3(RYR1):c.9579C>G (p.Cys3193Trp) rs587784379 0.00006
NM_000540.3(RYR1):c.10204T>G (p.Cys3402Gly) rs367543058 0.00005
NM_000540.3(RYR1):c.6617C>T (p.Thr2206Met) rs118192177 0.00004
NM_000540.3(RYR1):c.14818G>A (p.Ala4940Thr) rs118192158 0.00001
NM_000540.3(RYR1):c.4225C>T (p.Arg1409Ter) rs587784376 0.00001
NM_000540.3(RYR1):c.10725_10726del (p.Tyr3576fs) rs1555790936
NM_000540.3(RYR1):c.14582G>A (p.Arg4861His) rs63749869
NM_000540.3(RYR1):c.14842C>A (p.Gln4948Lys) rs1555805633
NM_000540.3(RYR1):c.1878_1882del (p.Pro626_Gly627insTer) rs797045931
NM_000540.3(RYR1):c.2505del (p.Pro836fs) rs797045932
NM_000540.3(RYR1):c.3381+1G>A rs797045934
NM_000540.3(RYR1):c.4094dup (p.Glu1366fs) rs587784375
NM_000540.3(RYR1):c.6127+1G>A rs1283302989
NM_000540.3(RYR1):c.784G>T (p.Glu262Ter) rs1381186128
NM_000540.3(RYR1):c.8724C>A (p.Tyr2908Ter) rs797045935

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