ClinVar Miner

List of variants in gene RYR2 reported by Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia

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Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_001035.3(RYR2):c.13564-41A>G rs114289907 0.03849
NM_001035.3(RYR2):c.5654G>A (p.Gly1885Glu) rs41315858 0.01767
NM_001035.3(RYR2):c.10324-4A>G rs72751287 0.00203
NM_001035.3(RYR2):c.9560A>G (p.Lys3187Arg) rs184218219 0.00137
NM_001035.3(RYR2):c.1144G>A (p.Val382Met) rs370057029 0.00007
NM_001035.3(RYR2):c.6232C>T (p.Pro2078Ser) rs780993255 0.00003
NM_001035.3(RYR2):c.10844G>A (p.Arg3615Gln) rs879255349 0.00001
NM_001035.3(RYR2):c.13476+8_13476+11dup rs864309562
NM_001035.3(RYR2):c.3265C>T (p.Arg1089Cys) rs879255350

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