ClinVar Miner

List of variants in gene RYR1 reported as likely pathogenic by Labcorp Genetics (formerly Invitae), Labcorp

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Gene type:
ClinVar version:
Total variants: 230
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HGVS dbSNP gnomAD frequency
NM_000540.3(RYR1):c.2275A>G (p.Asn759Asp) rs147320363 0.00014
NM_000540.3(RYR1):c.2956C>T (p.Arg986Cys) rs150993059 0.00006
NM_000540.3(RYR1):c.9758T>C (p.Ile3253Thr) rs375626634 0.00006
NM_000540.3(RYR1):c.11557G>A (p.Glu3853Lys) rs145087576 0.00004
NM_000540.3(RYR1):c.1841G>A (p.Arg614His) rs193922772 0.00004
NM_000540.3(RYR1):c.4361C>T (p.Pro1454Leu) rs149737658 0.00004
NM_000540.3(RYR1):c.6274+1G>A rs1226228092 0.00004
NM_000540.3(RYR1):c.10229C>T (p.Pro3410Leu) rs769196275 0.00003
NM_000540.3(RYR1):c.1099C>T (p.Arg367Trp) rs140037232 0.00003
NM_000540.3(RYR1):c.12335C>T (p.Ser4112Leu) rs193922847 0.00003
NM_000540.3(RYR1):c.7099G>A (p.Ala2367Thr) rs146306934 0.00003
NM_000540.3(RYR1):c.7291G>A (p.Asp2431Asn) rs193922810 0.00003
NM_000540.3(RYR1):c.7771C>G (p.Arg2591Gly) rs193922822 0.00003
NM_000540.3(RYR1):c.947G>T (p.Arg316Leu) rs193922761 0.00003
NM_000540.3(RYR1):c.13990T>C (p.Cys4664Arg) rs759500310 0.00002
NM_000540.3(RYR1):c.2045G>A (p.Arg682Gln) rs372513400 0.00002
NM_000540.3(RYR1):c.2635G>A (p.Glu879Lys) rs746904839 0.00002
NM_000540.3(RYR1):c.3877C>A (p.Pro1293Thr) rs146407179 0.00002
NM_000540.3(RYR1):c.6359T>C (p.Met2120Thr) rs398123473 0.00002
NM_000540.3(RYR1):c.10937+1G>C rs775682151 0.00001
NM_000540.3(RYR1):c.1100G>A (p.Arg367Gln) rs113332073 0.00001
NM_000540.3(RYR1):c.11590+1G>T rs113928116 0.00001
NM_000540.3(RYR1):c.11608+2T>C rs1443083095 0.00001
NM_000540.3(RYR1):c.12406C>A (p.Arg4136Ser) rs193922849 0.00001
NM_000540.3(RYR1):c.13724A>G (p.Asn4575Ser) rs1568591803 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.1655G>A (p.Arg552Gln) rs772978260 0.00001
NM_000540.3(RYR1):c.2897C>T (p.Pro966Leu) rs143179371 0.00001
NM_000540.3(RYR1):c.3253G>A (p.Gly1085Ser) rs752849270 0.00001
NM_000540.3(RYR1):c.326G>A (p.Arg109Gln) rs762278203 0.00001
NM_000540.3(RYR1):c.3535C>T (p.Arg1179Trp) rs763944786 0.00001
NM_000540.3(RYR1):c.4160+1G>A rs113460156 0.00001
NM_000540.3(RYR1):c.46-1G>A rs1238479593 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.6797-1G>A rs1221087983 0.00001
NM_000540.3(RYR1):c.7076G>A (p.Arg2359Gln) rs1387126664 0.00001
NM_000540.3(RYR1):c.7199A>G (p.Asp2400Gly) rs976108591 0.00001
NM_000540.3(RYR1):c.7757T>A (p.Val2586Glu) rs577314143 0.00001
NM_000540.3(RYR1):c.7879G>C (p.Val2627Leu) rs914804033 0.00001
NM_000540.3(RYR1):c.8027G>A (p.Arg2676Gln) rs780455924 0.00001
NM_000540.3(RYR1):c.8310+1G>T rs1970380121 0.00001
NM_000540.3(RYR1):c.9149T>A (p.Val3050Asp) rs1157851269 0.00001
NM_000540.3(RYR1):c.9472+1G>A rs776697656 0.00001
NC_000019.10:g.(?_38585928)_(38586012_?)dup
NC_000019.9:g.(?_38955259)_(38955382_?)del
NC_000019.9:g.(?_38965938)_(38966110_?)dup
NC_000019.9:g.(?_38979797)_(39010114_?)dup
NC_000019.9:g.(?_39013648)_(39028620_?)dup
NC_000019.9:g.(?_39037065)_(39037186_?)dup
NC_000019.9:g.(?_39038853)_(39039080_?)dup
NC_000019.9:g.(?_39038863)_(39039070_?)dup
NC_000019.9:g.(?_39066539)_(39066621_?)dup
NC_000019.9:g.(?_39066549)_(39078060_?)del
NM_000540.3(RYR1):c.10229C>G (p.Pro3410Arg)
NM_000540.3(RYR1):c.10259+1G>A
NM_000540.3(RYR1):c.10260-2_10268del
NM_000540.3(RYR1):c.10440+2_10440+22del rs1971306200
NM_000540.3(RYR1):c.10501G>T (p.Asp3501Tyr) rs763259167
NM_000540.3(RYR1):c.10561G>A (p.Gly3521Ser)
NM_000540.3(RYR1):c.10626+1G>A
NM_000540.3(RYR1):c.10686+1G>A
NM_000540.3(RYR1):c.10686+2T>C
NM_000540.3(RYR1):c.10687-2A>G rs1600930323
NM_000540.3(RYR1):c.10817T>C (p.Leu3606Pro) rs118192127
NM_000540.3(RYR1):c.10824+1G>C
NM_000540.3(RYR1):c.10824+2T>G
NM_000540.3(RYR1):c.10922T>C (p.Leu3641Pro) rs1555791151
NM_000540.3(RYR1):c.10937+1G>A rs775682151
NM_000540.3(RYR1):c.10985_11034+80delinsCCTCAA rs2145723826
NM_000540.3(RYR1):c.11132C>A (p.Thr3711Lys)
NM_000540.3(RYR1):c.11132C>G (p.Thr3711Arg) rs375915752
NM_000540.3(RYR1):c.11315G>T (p.Arg3772Leu) rs193922839
NM_000540.3(RYR1):c.11439+1G>C
NM_000540.3(RYR1):c.11517-2A>G
NM_000540.3(RYR1):c.11557G>C (p.Glu3853Gln)
NM_000540.3(RYR1):c.11591-1G>A
NM_000540.3(RYR1):c.11608+1G>A
NM_000540.3(RYR1):c.11608+1G>C
NM_000540.3(RYR1):c.11690-2A>C rs2145774562
NM_000540.3(RYR1):c.11697G>C (p.Gln3899His) rs1555794184
NM_000540.3(RYR1):c.11708G>T (p.Arg3903Leu)
NM_000540.3(RYR1):c.11907+1G>C
NM_000540.3(RYR1):c.1205T>C (p.Met402Thr) rs118192117
NM_000540.3(RYR1):c.12095-2A>G
NM_000540.3(RYR1):c.12145G>C (p.Glu4049Gln)
NM_000540.3(RYR1):c.12145_12146delinsTT (p.Glu4049Leu) rs2145790333
NM_000540.3(RYR1):c.12147A>C (p.Glu4049Asp)
NM_000540.3(RYR1):c.12535C>T (p.Arg4179Cys) rs2145831560
NM_000540.3(RYR1):c.12624+1G>A
NM_000540.3(RYR1):c.12652T>C (p.Phe4218Leu) rs1568581720
NM_000540.3(RYR1):c.12700G>A (p.Val4234Met)
NM_000540.3(RYR1):c.12729G>C (p.Glu4243Asp) rs1185644472
NM_000540.3(RYR1):c.131G>C (p.Arg44Pro)
NM_000540.3(RYR1):c.13659+2T>A
NM_000540.3(RYR1):c.13660-1G>A
NM_000540.3(RYR1):c.13660-1_13660del
NM_000540.3(RYR1):c.13724A>C (p.Asn4575Thr) rs1568591803
NM_000540.3(RYR1):c.13898T>A (p.Leu4633Gln) rs1555801874
NM_000540.3(RYR1):c.13898T>C (p.Leu4633Pro) rs1555801874
NM_000540.3(RYR1):c.13909A>C (p.Thr4637Pro)
NM_000540.3(RYR1):c.13919T>G (p.Met4640Arg) rs1568594068
NM_000540.3(RYR1):c.13940T>C (p.Leu4647Pro) rs1555801902
NM_000540.3(RYR1):c.13949T>C (p.Leu4650Pro) rs118192138
NM_000540.3(RYR1):c.14051T>C (p.Phe4684Ser) rs193922864
NM_000540.3(RYR1):c.14126C>G (p.Thr4709Arg)
NM_000540.3(RYR1):c.14129+1G>C
NM_000540.3(RYR1):c.14129+1G>T rs142929172
NM_000540.3(RYR1):c.14172+1G>A
NM_000540.3(RYR1):c.14227G>A (p.Gly4743Ser) rs2145888340
NM_000540.3(RYR1):c.14378T>G (p.Leu4793Arg) rs118192179
NM_000540.3(RYR1):c.14386T>C (p.Tyr4796His) rs1568604251
NM_000540.3(RYR1):c.1440+1G>A rs1568445415
NM_000540.3(RYR1):c.1440+2T>G rs1555767403
NM_000540.3(RYR1):c.14423T>G (p.Phe4808Cys) rs1274780855
NM_000540.3(RYR1):c.14489C>A (p.Ser4830Tyr) rs1555803852
NM_000540.3(RYR1):c.14545G>T (p.Val4849Phe) rs118192168
NM_000540.3(RYR1):c.14570T>A (p.Phe4857Tyr) rs1974148669
NM_000540.3(RYR1):c.14581C>A (p.Arg4861Ser)
NM_000540.3(RYR1):c.14581C>G (p.Arg4861Gly) rs118192181
NM_000540.3(RYR1):c.14647-3_14647del rs1568611362
NM_000540.3(RYR1):c.14678G>T (p.Arg4893Leu)
NM_000540.3(RYR1):c.14680G>C (p.Ala4894Pro) rs193922888
NM_000540.3(RYR1):c.14690G>A (p.Gly4897Asp) rs118192148
NM_000540.3(RYR1):c.14717C>T (p.Ala4906Val) rs118192153
NM_000540.3(RYR1):c.14759C>A (p.Thr4920Asn) rs118192155
NM_000540.3(RYR1):c.14759C>T (p.Thr4920Ile) rs118192155
NM_000540.3(RYR1):c.14761_14762delinsAC (p.Phe4921Thr) rs118192171
NM_000540.3(RYR1):c.14779G>T (p.Val4927Phe) rs193922892
NM_000540.3(RYR1):c.14801A>T (p.Gln4934Leu)
NM_000540.3(RYR1):c.14804-1G>T rs193922894
NM_000540.3(RYR1):c.14811C>G (p.Ile4937Met) rs2145917373
NM_000540.3(RYR1):c.14868+1G>C rs751692413
NM_000540.3(RYR1):c.14869-1G>T rs193922897
NM_000540.3(RYR1):c.14869-2A>G
NM_000540.3(RYR1):c.1576+1G>A rs2145393963
NM_000540.3(RYR1):c.1588C>A (p.Arg530Ser) rs757399861
NM_000540.3(RYR1):c.1588C>T (p.Arg530Cys) rs757399861
NM_000540.3(RYR1):c.164_165+1del
NM_000540.3(RYR1):c.165+1G>A
NM_000540.3(RYR1):c.166-2A>C
NM_000540.3(RYR1):c.1673-1G>A
NM_000540.3(RYR1):c.1840C>G (p.Arg614Gly) rs118192172
NM_000540.3(RYR1):c.1859T>A (p.Ile620Asn)
NM_000540.3(RYR1):c.2044C>T (p.Arg682Trp) rs776252106
NM_000540.3(RYR1):c.212C>A (p.Ser71Tyr) rs118192113
NM_000540.3(RYR1):c.2276A>G (p.Asn759Ser)
NM_000540.3(RYR1):c.2366G>T (p.Arg789Leu)
NM_000540.3(RYR1):c.2682G>A (p.Pro894=) rs919322708
NM_000540.3(RYR1):c.2683-1G>A rs2145434598
NM_000540.3(RYR1):c.2786+2T>G rs1967928524
NM_000540.3(RYR1):c.3178+1G>A rs1161929108
NM_000540.3(RYR1):c.3291C>T (p.Gly1097=) rs1234999215
NM_000540.3(RYR1):c.346-1G>A
NM_000540.3(RYR1):c.3557-10_3562del
NM_000540.3(RYR1):c.3766-1G>A rs2145482463
NM_000540.3(RYR1):c.3799C>A (p.Pro1267Thr) rs564495912
NM_000540.3(RYR1):c.3799C>G (p.Pro1267Ala)
NM_000540.3(RYR1):c.3800C>A (p.Pro1267His) rs150495044
NM_000540.3(RYR1):c.424+1G>T
NM_000540.3(RYR1):c.4294-1G>C
NM_000540.3(RYR1):c.4294-2A>G rs1555777043
NM_000540.3(RYR1):c.45+1G>A
NM_000540.3(RYR1):c.4708-1G>C
NM_000540.3(RYR1):c.4934G>T (p.Arg1645Leu) rs193922778
NM_000540.3(RYR1):c.4935-1G>C
NM_000540.3(RYR1):c.4935-2A>T rs1969238474
NM_000540.3(RYR1):c.5053T>C (p.Cys1685Arg)
NM_000540.3(RYR1):c.5053T>G (p.Cys1685Gly)
NM_000540.3(RYR1):c.5054G>A (p.Cys1685Tyr)
NM_000540.3(RYR1):c.5055C>G (p.Cys1685Trp) rs761393058
NM_000540.3(RYR1):c.5119C>T (p.Arg1707Cys)
NM_000540.3(RYR1):c.530G>A (p.Arg177His)
NM_000540.3(RYR1):c.5815-2A>G
NM_000540.3(RYR1):c.5915A>T (p.Asn1972Ile) rs1377668924
NM_000540.3(RYR1):c.5989G>A (p.Glu1997Lys) rs1366464512
NM_000540.3(RYR1):c.6127+1G>A rs1283302989
NM_000540.3(RYR1):c.6349G>C (p.Val2117Leu) rs193922788
NM_000540.3(RYR1):c.6350T>C (p.Val2117Ala)
NM_000540.3(RYR1):c.643G>A (p.Gly215Arg) rs1393197844
NM_000540.3(RYR1):c.6487C>G (p.Arg2163Gly)
NM_000540.3(RYR1):c.6488G>T (p.Arg2163Leu) rs118192163
NM_000540.3(RYR1):c.6502G>C (p.Val2168Leu)
NM_000540.3(RYR1):c.6610C>T (p.His2204Tyr) rs745432757
NM_000540.3(RYR1):c.6628G>T (p.Val2210Phe) rs193922792
NM_000540.3(RYR1):c.6663+1G>A
NM_000540.3(RYR1):c.6663+2T>C
NM_000540.3(RYR1):c.6701G>A (p.Arg2234His)
NM_000540.3(RYR1):c.6707T>G (p.Leu2236Arg) rs1969830618
NM_000540.3(RYR1):c.6796+1G>A rs2145586850
NM_000540.3(RYR1):c.6856C>G (p.Leu2286Val)
NM_000540.3(RYR1):c.6891+2T>C
NM_000540.3(RYR1):c.7006C>T (p.Arg2336Cys) rs1218605372
NM_000540.3(RYR1):c.7007G>T (p.Arg2336Leu)
NM_000540.3(RYR1):c.7035C>G (p.Ser2345Arg) rs1448949048
NM_000540.3(RYR1):c.7205_7214+14del
NM_000540.3(RYR1):c.7215-1G>T
NM_000540.3(RYR1):c.7298T>C (p.Leu2433Pro) rs1600822174
NM_000540.3(RYR1):c.7303C>T (p.Arg2435Cys) rs1970033550
NM_000540.3(RYR1):c.7355G>A (p.Arg2452Gln) rs193922815
NM_000540.3(RYR1):c.7360C>A (p.Arg2454Ser)
NM_000540.3(RYR1):c.742G>T (p.Gly248Trp) rs1801086
NM_000540.3(RYR1):c.7444+2T>C
NM_000540.3(RYR1):c.7523G>C (p.Arg2508Pro)
NM_000540.3(RYR1):c.7615-1G>T rs1317181118
NM_000540.3(RYR1):c.7777C>G (p.Arg2593Gly) rs756685891
NM_000540.3(RYR1):c.7835+1G>A rs1057524858
NM_000540.3(RYR1):c.7835+2T>G rs1970195394
NM_000540.3(RYR1):c.7836-1G>A rs1568507354
NM_000540.3(RYR1):c.7836-2A>G
NM_000540.3(RYR1):c.7926+2T>C rs1555784801
NM_000540.3(RYR1):c.7927-1G>T
NM_000540.3(RYR1):c.8067+1G>A
NM_000540.3(RYR1):c.8067+1G>T
NM_000540.3(RYR1):c.8232-1G>A
NM_000540.3(RYR1):c.8310+1G>A
NM_000540.3(RYR1):c.8617-2A>G
NM_000540.3(RYR1):c.8692+1G>T rs1057523844
NM_000540.3(RYR1):c.8693-1G>A rs1568514017
NM_000540.3(RYR1):c.8929_8932+4delinsAAGCGG rs1555786205
NM_000540.3(RYR1):c.9122+1G>A
NM_000540.3(RYR1):c.9221C>T (p.Ser3074Phe)
NM_000540.3(RYR1):c.9234-1G>C
NM_000540.3(RYR1):c.9473-2A>G
NM_000540.3(RYR1):c.9554+1G>A
NM_000540.3(RYR1):c.958-2A>G
NM_000540.3(RYR1):c.9686-1del
NM_000540.3(RYR1):c.9686-7_9705del rs2145681468
NM_000540.3(RYR1):c.9978C>A (p.Asn3326Lys) rs367543057

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