ClinVar Miner

List of variants in gene RYR1 reported as likely pathogenic by GeneDx

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Total variants: 96
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HGVS dbSNP gnomAD frequency
NM_000540.3(RYR1):c.1598G>A (p.Arg533His) rs144336148 0.00029
NM_000540.3(RYR1):c.7261G>T (p.Ala2421Ser) rs193922808 0.00010
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.6418C>T (p.Arg2140Trp) rs750275456 0.00005
NM_000540.3(RYR1):c.1841G>A (p.Arg614His) rs193922772 0.00004
NM_000540.3(RYR1):c.13691G>A (p.Arg4564Gln) rs864309559 0.00003
NM_000540.3(RYR1):c.5115_5122del (p.Leu1706fs) rs1248355799 0.00003
NM_000540.3(RYR1):c.9811G>A (p.Glu3271Lys) rs773026490 0.00003
NM_000540.3(RYR1):c.13990T>C (p.Cys4664Arg) rs759500310 0.00002
NM_000540.3(RYR1):c.14173-2A>G rs1189024951 0.00002
NM_000540.3(RYR1):c.14918C>T (p.Pro4973Leu) rs146876145 0.00002
NM_000540.3(RYR1):c.10749_10753del (p.Glu3584fs) rs1412691915 0.00001
NM_000540.3(RYR1):c.11708G>A (p.Arg3903Gln) rs148399313 0.00001
NM_000540.3(RYR1):c.131G>A (p.Arg44His) rs139161723 0.00001
NM_000540.3(RYR1):c.13525_13531dup (p.Lys4511fs) rs928989953 0.00001
NM_000540.3(RYR1):c.13672C>T (p.Arg4558Trp) rs771741606 0.00001
NM_000540.3(RYR1):c.13673G>A (p.Arg4558Gln) rs118192130 0.00001
NM_000540.3(RYR1):c.14129+1G>A rs142929172 0.00001
NM_000540.3(RYR1):c.15021G>C (p.Gln5007His) rs376293495 0.00001
NM_000540.3(RYR1):c.1983G>A (p.Trp661Ter) rs1305971341 0.00001
NM_000540.3(RYR1):c.2119G>A (p.Gly707Ser) rs376526576 0.00001
NM_000540.3(RYR1):c.2682G>T (p.Pro894=) rs919322708 0.00001
NM_000540.3(RYR1):c.328C>T (p.His110Tyr) rs767777113 0.00001
NM_000540.3(RYR1):c.3362A>G (p.Tyr1121Cys) rs756138074 0.00001
NM_000540.3(RYR1):c.3381+5G>A rs199691436 0.00001
NM_000540.3(RYR1):c.4777C>T (p.Arg1593Trp) rs1229854214 0.00001
NM_000540.3(RYR1):c.5183C>T (p.Ser1728Phe) rs193922781 0.00001
NM_000540.3(RYR1):c.6664-2A>G rs1346257891 0.00001
NM_000540.3(RYR1):c.6823G>A (p.Val2275Met) rs756847750 0.00001
NM_000540.3(RYR1):c.7027G>A (p.Gly2343Ser) rs536596969 0.00001
NM_000540.3(RYR1):c.7036G>A (p.Val2346Met) rs193922799 0.00001
NM_000540.3(RYR1):c.7076G>A (p.Arg2359Gln) rs1387126664 0.00001
NM_000540.3(RYR1):c.7879G>C (p.Val2627Leu) rs914804033 0.00001
NM_000540.3(RYR1):c.8290G>A (p.Glu2764Lys) rs193922829 0.00001
NM_000540.3(RYR1):c.8291A>G (p.Glu2764Gly) rs1403616422 0.00001
NM_000540.3(RYR1):c.9472+1G>A rs776697656 0.00001
NM_000540.3(RYR1):c.10824+2T>G
NM_000540.3(RYR1):c.11320dup (p.Ala3774fs) rs768698639
NM_000540.3(RYR1):c.11908-2A>T rs763146574
NM_000540.3(RYR1):c.1198G>A (p.Ala400Thr) rs777016690
NM_000540.3(RYR1):c.12110del (p.Gly4037fs) rs1555795308
NM_000540.3(RYR1):c.12149C>A (p.Ser4050Tyr) rs193922844
NM_000540.3(RYR1):c.12495_12496insT (p.Ala4166fs) rs1599625856
NM_000540.3(RYR1):c.12544_12570del (p.Ile4182_Glu4190del) rs1238215145
NM_000540.3(RYR1):c.13013_13032del (p.Ala4338fs) rs193922856
NM_000540.3(RYR1):c.13654T>A (p.Phe4552Ile) rs1085307909
NM_000540.3(RYR1):c.13690C>T (p.Arg4564Trp) rs753208767
NM_000540.3(RYR1):c.13764del (p.Glu4590fs) rs1555801843
NM_000540.3(RYR1):c.13909A>G (p.Thr4637Ala) rs118192166
NM_000540.3(RYR1):c.14104T>C (p.Trp4702Arg) rs2145874187
NM_000540.3(RYR1):c.14285C>T (p.Pro4762Leu)
NM_000540.3(RYR1):c.14385G>A (p.Trp4795Ter) rs565173276
NM_000540.3(RYR1):c.14537C>T (p.Ala4846Val) rs118192143
NM_000540.3(RYR1):c.14573A>G (p.Asn4858Ser) rs1555803933
NM_000540.3(RYR1):c.14672G>A (p.Gly4891Asp) rs398123470
NM_000540.3(RYR1):c.14815G>A (p.Asp4939Asn) rs760010175
NM_000540.3(RYR1):c.14815G>T (p.Asp4939Tyr)
NM_000540.3(RYR1):c.14929G>C (p.Glu4977Gln) rs200777598
NM_000540.3(RYR1):c.14938_14939del (p.Thr4980fs) rs1568613455
NM_000540.3(RYR1):c.15030T>A (p.Tyr5010Ter) rs1064797243
NM_000540.3(RYR1):c.2287G>A (p.Val763Met) rs369947687
NM_000540.3(RYR1):c.2361-1G>C rs113379223
NM_000540.3(RYR1):c.2505del (p.Pro836fs) rs797045932
NM_000540.3(RYR1):c.2682G>A (p.Pro894=) rs919322708
NM_000540.3(RYR1):c.2706del (p.His903fs) rs747409654
NM_000540.3(RYR1):c.2870+1G>A rs765241115
NM_000540.3(RYR1):c.3451dup (p.Met1151fs) rs2145461642
NM_000540.3(RYR1):c.3713_3715dup (p.Ser1238dup) rs761789667
NM_000540.3(RYR1):c.3799C>A (p.Pro1267Thr) rs564495912
NM_000540.3(RYR1):c.3800C>G (p.Pro1267Arg) rs150495044
NM_000540.3(RYR1):c.3964_3982dup (p.Asp1328fs) rs1281542312
NM_000540.3(RYR1):c.4094del (p.Gly1365fs) rs587784375
NM_000540.3(RYR1):c.4590del (p.Asn1531fs) rs1064793254
NM_000540.3(RYR1):c.528G>T (p.Glu176Asp) rs1568436081
NM_000540.3(RYR1):c.5309C>A (p.Ser1770Ter) rs398123472
NM_000540.3(RYR1):c.5435T>C (p.Leu1812Pro) rs1969278145
NM_000540.3(RYR1):c.5509_5510del (p.Gln1837fs) rs1555779450
NM_000540.3(RYR1):c.6220AAG[2] (p.Lys2076del)
NM_000540.3(RYR1):c.6349G>C (p.Val2117Leu) rs193922788
NM_000540.3(RYR1):c.6353G>C (p.Arg2118Pro) rs201649680
NM_000540.3(RYR1):c.6488G>A (p.Arg2163His) rs118192163
NM_000540.3(RYR1):c.6566_6567del (p.Lys2189fs) rs1064794845
NM_000540.3(RYR1):c.6631A>C (p.Met2211Leu) rs1131691876
NM_000540.3(RYR1):c.6814C>T (p.Pro2272Ser) rs777460436
NM_000540.3(RYR1):c.7051A>C (p.Asn2351His)
NM_000540.3(RYR1):c.7261G>A (p.Ala2421Thr)
NM_000540.3(RYR1):c.7291G>T (p.Asp2431Tyr) rs193922810
NM_000540.3(RYR1):c.7835+1G>A rs1057524858
NM_000540.3(RYR1):c.7835+2T>G rs1970195394
NM_000540.3(RYR1):c.8196del (p.Gly2733fs) rs1600844997
NM_000540.3(RYR1):c.8692+1G>T rs1057523844
NM_000540.3(RYR1):c.9130T>C (p.Cys3044Arg) rs1970727401
NM_000540.3(RYR1):c.9310G>A (p.Glu3104Lys) rs193922832
NM_000540.3(RYR1):c.9499C>T (p.Arg3167Ter) rs1171637302
NM_000540.3(RYR1):c.982C>T (p.Arg328Trp) rs193922762

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