ClinVar Miner

List of variants in gene RYR1 reported as uncertain significance by Biesecker Lab/Clinical Genomics Section, National Institutes of Health

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Total variants: 58
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HGVS dbSNP gnomAD frequency
NM_000540.3(RYR1):c.9242T>C (p.Met3081Thr) rs147012990 0.00207
NM_000540.3(RYR1):c.10616G>A (p.Arg3539His) rs143987857 0.00171
NM_000540.3(RYR1):c.11798A>G (p.Tyr3933Cys) rs147136339 0.00108
NM_000540.3(RYR1):c.10097G>A (p.Arg3366His) rs137932199 0.00073
NM_000540.3(RYR1):c.2122G>A (p.Asp708Asn) rs138874610 0.00065
NM_000540.3(RYR1):c.12553G>A (p.Ala4185Thr) rs151119428 0.00037
NM_000540.3(RYR1):c.5317C>T (p.Pro1773Ser) rs192863857 0.00031
NM_000540.3(RYR1):c.2822C>T (p.Ala941Val) rs748568687 0.00020
NM_000540.3(RYR1):c.89A>T (p.Glu30Val) rs145771708 0.00019
NM_000540.3(RYR1):c.7902C>A (p.Asn2634Lys) rs148041292 0.00015
NM_000540.3(RYR1):c.2275A>G (p.Asn759Asp) rs147320363 0.00014
NM_000540.3(RYR1):c.11599C>T (p.Arg3867Cys) rs138593495 0.00010
NM_000540.3(RYR1):c.10664A>T (p.Asn3555Ile) rs199689862 0.00009
NM_000540.3(RYR1):c.1661A>G (p.Glu554Gly) rs760285455 0.00008
NM_000540.3(RYR1):c.2812G>A (p.Val938Met) rs369182023 0.00007
NM_000540.3(RYR1):c.6670C>T (p.Arg2224Cys) rs199870223 0.00007
NM_000540.3(RYR1):c.9800C>T (p.Pro3267Leu) rs200375946 0.00007
NM_000540.3(RYR1):c.10492C>G (p.Arg3498Gly) rs201358408 0.00006
NM_000540.3(RYR1):c.14901C>G (p.Asp4967Glu) rs201712715 0.00006
NM_000540.3(RYR1):c.14915C>T (p.Thr4972Ile) rs199866740 0.00006
NM_000540.3(RYR1):c.2956C>T (p.Arg986Cys) rs150993059 0.00006
NM_000540.3(RYR1):c.7487C>T (p.Pro2496Leu) rs193922817 0.00006
NM_000540.3(RYR1):c.11557G>A (p.Glu3853Lys) rs145087576 0.00004
NM_000540.3(RYR1):c.2467G>C (p.Glu823Gln) rs370490388 0.00004
NM_000540.3(RYR1):c.8305G>A (p.Asp2769Asn) rs566495420 0.00004
NM_000540.3(RYR1):c.1099C>T (p.Arg367Trp) rs140037232 0.00003
NM_000540.3(RYR1):c.8113G>A (p.Ala2705Thr) rs536813036 0.00003
NM_000540.3(RYR1):c.9347C>T (p.Ser3116Leu) rs200238436 0.00003
NM_000540.3(RYR1):c.10183C>T (p.Arg3395Trp) rs761996554 0.00002
NM_000540.3(RYR1):c.11731A>G (p.Thr3911Ala) rs200622493 0.00001
NM_000540.3(RYR1):c.14167C>T (p.Arg4723Cys) rs200473035 0.00001
NM_000540.3(RYR1):c.14189G>T (p.Gly4730Val) rs763466452 0.00001
NM_000540.3(RYR1):c.2173G>A (p.Val725Met) rs200698933 0.00001
NM_000540.3(RYR1):c.2255C>T (p.Pro752Leu) rs201229451 0.00001
NM_000540.3(RYR1):c.2461C>A (p.His821Asn) rs764127808 0.00001
NM_000540.3(RYR1):c.2533C>T (p.Leu845Phe) rs201545585 0.00001
NM_000540.3(RYR1):c.3431C>T (p.Pro1144Leu) rs201940876 0.00001
NM_000540.3(RYR1):c.376A>G (p.Met126Val) rs146065960 0.00001
NM_000540.3(RYR1):c.5980C>T (p.Arg1994Cys) rs369167120 0.00001
NM_000540.3(RYR1):c.6301A>G (p.Met2101Val) rs531823936 0.00001
NM_000540.3(RYR1):c.6607A>G (p.Met2203Val) rs200203904 0.00001
NM_000540.3(RYR1):c.6700C>T (p.Arg2234Cys) rs201465595 0.00001
NM_000540.3(RYR1):c.10046C>G (p.Ala3349Gly) rs199531105
NM_000540.3(RYR1):c.11049GGA[4] (p.Glu3689del) rs760784102
NM_000540.3(RYR1):c.1384G>A (p.Glu462Lys) rs199592055
NM_000540.3(RYR1):c.14929G>C (p.Glu4977Gln) rs200777598
NM_000540.3(RYR1):c.15098A>G (p.Tyr5033Cys) rs201765762
NM_000540.3(RYR1):c.1753A>G (p.Ile585Val) rs200770015
NM_000540.3(RYR1):c.1808_1823del (p.Cys603fs) rs869312738
NM_000540.3(RYR1):c.2075C>T (p.Thr692Ile) rs869312735
NM_000540.3(RYR1):c.2697C>A (p.Asn899Lys) rs201401814
NM_000540.3(RYR1):c.2824G>A (p.Asp942Asn) rs869312736
NM_000540.3(RYR1):c.5308T>G (p.Ser1770Ala) rs571494344
NM_000540.3(RYR1):c.6191T>G (p.Met2064Arg) rs200388510
NM_000540.3(RYR1):c.6688A>T (p.Thr2230Ser) rs200630616
NM_000540.3(RYR1):c.7958A>G (p.Lys2653Arg) rs199864636
NM_000540.3(RYR1):c.8155T>C (p.Tyr2719His) rs200920798
NM_000540.3(RYR1):c.8231+1G>A rs869312737

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