List of variants reported as likely pathogenic for muscular channelopathy by Fulgent Genetics, Fulgent Genetics

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Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 166

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HGVS	dbSNP	gnomAD frequency
NM_000069.3(CACNA1S):c.5049-2A>G	rs148989517	0.00056
NM_019098.5(CNGB3):c.2086C>T (p.Arg696Ter)	rs192448853	0.00009
NM_000540.3(RYR1):c.10648C>T (p.Arg3550Trp)	rs536304635	0.00008
NM_000083.3(CLCN1):c.2363A>C (p.Gln788Pro)	rs199610988	0.00007
NM_000083.3(CLCN1):c.1222C>G (p.Pro408Ala)	rs202019723	0.00006
NM_000083.3(CLCN1):c.1606G>A (p.Val536Ile)	rs777685454	0.00006
NM_019098.5(CNGB3):c.467C>T (p.Ser156Phe)	rs139207764	0.00005
NM_000540.3(RYR1):c.11763C>A (p.Tyr3921Ter)	rs377178986	0.00004
NM_000540.3(RYR1):c.1250T>C (p.Leu417Pro)	rs764262446	0.00004
NM_000540.3(RYR1):c.14126C>T (p.Thr4709Met)	rs118192140	0.00004
NM_000540.3(RYR1):c.5340_5341del (p.Cys1781fs)	rs779723153	0.00004
NM_000540.3(RYR1):c.6274+1G>A	rs1226228092	0.00004
NM_000083.3(CLCN1):c.1013G>A (p.Arg338Gln)	rs80356703	0.00003
NM_000083.3(CLCN1):c.1283T>C (p.Phe428Ser)	rs774843953	0.00003
NM_000083.3(CLCN1):c.826G>A (p.Gly276Ser)	rs765181341	0.00003
NM_000540.3(RYR1):c.1589G>A (p.Arg530His)	rs111888148	0.00003
NM_000540.3(RYR1):c.7291G>A (p.Asp2431Asn)	rs193922810	0.00003
NM_000083.3(CLCN1):c.1642G>A (p.Glu548Lys)	rs546411827	0.00002
NM_000083.3(CLCN1):c.2434C>T (p.Gln812Ter)	rs772150974	0.00002
NM_000540.3(RYR1):c.14173-2A>G	rs1189024951	0.00002
NM_000540.3(RYR1):c.4674dup (p.Asn1559fs)	rs759632485	0.00002
NM_000540.3(RYR1):c.6838G>A (p.Val2280Ile)	rs193922797	0.00002
NM_019098.5(CNGB3):c.1320+4A>G	rs1026427970	0.00002
NM_000069.3(CACNA1S):c.1234C>T (p.Arg412Ter)	rs767052156	0.00001
NM_000069.3(CACNA1S):c.1583G>T (p.Arg528Leu)	rs80338777	0.00001
NM_000069.3(CACNA1S):c.2269C>T (p.Arg757Ter)	rs770073633	0.00001
NM_000069.3(CACNA1S):c.3414+3A>T	rs892742196	0.00001
NM_000069.3(CACNA1S):c.3795G>T (p.Gln1265His)	rs201627041	0.00001
NM_000069.3(CACNA1S):c.502C>T (p.Arg168Ter)	rs201998231	0.00001
NM_000083.3(CLCN1):c.1063G>A (p.Gly355Arg)	rs767000881	0.00001
NM_000083.3(CLCN1):c.1064G>A (p.Gly355Glu)	rs1282349760	0.00001
NM_000083.3(CLCN1):c.1401+1G>T	rs769861892	0.00001
NM_000083.3(CLCN1):c.2172G>T (p.Glu724Asp)	rs753308829	0.00001
NM_000083.3(CLCN1):c.409T>G (p.Tyr137Asp)	rs748639603	0.00001
NM_000083.3(CLCN1):c.774G>A (p.Glu258=)	rs770605959	0.00001
NM_000083.3(CLCN1):c.871G>A (p.Glu291Lys)	rs121912805	0.00001
NM_000334.4(SCN4A):c.4379G>A (p.Arg1460Gln)	rs1210934866	0.00001
NM_000334.4(SCN4A):c.664C>T (p.Arg222Trp)	rs527236148	0.00001
NM_000540.3(RYR1):c.11590+1G>T	rs113928116	0.00001
NM_000540.3(RYR1):c.13525_13531dup (p.Lys4511fs)	rs928989953	0.00001
NM_000540.3(RYR1):c.14129+1G>A	rs142929172	0.00001
NM_000540.3(RYR1):c.14833C>T (p.Arg4945Ter)	rs1432807966	0.00001
NM_000540.3(RYR1):c.14939C>T (p.Thr4980Met)	rs398123471	0.00001
NM_000540.3(RYR1):c.3523G>A (p.Glu1175Lys)	rs769744438	0.00001
NM_000540.3(RYR1):c.4160+1G>A	rs113460156	0.00001
NM_000540.3(RYR1):c.5183C>T (p.Ser1728Phe)	rs193922781	0.00001
NM_000540.3(RYR1):c.7268T>A (p.Met2423Lys)	rs118192174	0.00001
NM_000540.3(RYR1):c.7282G>A (p.Ala2428Thr)	rs193922809	0.00001
NM_000540.3(RYR1):c.7372C>T (p.Arg2458Cys)	rs28933397	0.00001
NM_000540.3(RYR1):c.9472+1G>A	rs776697656	0.00001
NM_019098.5(CNGB3):c.1447T>G (p.Tyr483Asp)	rs373270306	0.00001
NM_019098.5(CNGB3):c.1929-1G>A	rs750257554	0.00001
NM_019098.5(CNGB3):c.2011G>T (p.Glu671Ter)	rs761969118	0.00001
NM_019098.5(CNGB3):c.2T>C (p.Met1Thr)	rs1554619514	0.00001
NM_000069.3(CACNA1S):c.1112del (p.Thr371fs)
NM_000069.3(CACNA1S):c.1395del (p.Asp465fs)
NM_000069.3(CACNA1S):c.1401_1414del (p.Asn468fs)	rs2102144416
NM_000069.3(CACNA1S):c.1847G>A (p.Trp616Ter)	rs1572048220
NM_000069.3(CACNA1S):c.2491-1G>T	rs1558067283
NM_000069.3(CACNA1S):c.258+2T>C
NM_000069.3(CACNA1S):c.2658-2A>C
NM_000069.3(CACNA1S):c.2812del (p.Leu938fs)	rs1572038993
NM_000069.3(CACNA1S):c.3256C>A (p.Arg1086Ser)	rs80338782
NM_000069.3(CACNA1S):c.3326dup (p.Tyr1109Ter)
NM_000069.3(CACNA1S):c.3974G>A (p.Trp1325Ter)
NM_000069.3(CACNA1S):c.4038del (p.Glu1348fs)	rs1553248947
NM_000069.3(CACNA1S):c.4113+2T>C
NM_000069.3(CACNA1S):c.4860del (p.Val1621fs)
NM_000069.3(CACNA1S):c.5182C>T (p.Gln1728Ter)
NM_000069.3(CACNA1S):c.530C>A (p.Ser177Ter)
NM_000083.3(CLCN1):c.1010T>G (p.Phe337Cys)	rs1802715644
NM_000083.3(CLCN1):c.122del (p.Gly41fs)	rs1802291231
NM_000083.3(CLCN1):c.1247_1251+8del
NM_000083.3(CLCN1):c.1582+5G>A
NM_000083.3(CLCN1):c.1592del (p.Ala531fs)
NM_000083.3(CLCN1):c.1606G>C (p.Val536Leu)
NM_000083.3(CLCN1):c.160_176del (p.His54fs)
NM_000083.3(CLCN1):c.180+1G>A
NM_000083.3(CLCN1):c.180+2_180+8del
NM_000083.3(CLCN1):c.2401G>T (p.Glu801Ter)	rs1131691551
NM_000083.3(CLCN1):c.2576G>A (p.Gly859Asp)
NM_000083.3(CLCN1):c.2789del (p.Pro930fs)	rs749552056
NM_000083.3(CLCN1):c.2831dup (p.Gly945fs)	rs755176513
NM_000083.3(CLCN1):c.297T>A (p.Cys99Ter)
NM_000083.3(CLCN1):c.302-1G>A	rs529377088
NM_000083.3(CLCN1):c.302-2A>C
NM_000083.3(CLCN1):c.316del (p.Leu106fs)
NM_000083.3(CLCN1):c.346del (p.Glu116fs)
NM_000083.3(CLCN1):c.350A>G (p.Asp117Gly)
NM_000083.3(CLCN1):c.434-2_434dup	rs753470655
NM_000083.3(CLCN1):c.480G>C (p.Gln160His)	rs771532474
NM_000083.3(CLCN1):c.559del (p.Val187fs)
NM_000083.3(CLCN1):c.568G>A (p.Gly190Arg)	rs369773321
NM_000083.3(CLCN1):c.702del (p.Phe235fs)
NM_000083.3(CLCN1):c.762C>G (p.Cys254Trp)	rs772027125
NM_000083.3(CLCN1):c.782A>G (p.Tyr261Cys)
NM_000083.3(CLCN1):c.902dup (p.Asn301fs)
NM_000083.3(CLCN1):c.909dup (p.Arg304fs)
NM_000083.3(CLCN1):c.91_106del (p.Thr31fs)
NM_000083.3(CLCN1):c.942_960del (p.Phe314fs)
NM_000083.3(CLCN1):c.991G>T (p.Ala331Ser)
NM_000334.4(SCN4A):c.1043dup (p.Tyr349fs)
NM_000334.4(SCN4A):c.1173del (p.Phe392fs)	rs1235665641
NM_000334.4(SCN4A):c.1452+1G>T
NM_000334.4(SCN4A):c.2377-1G>A
NM_000334.4(SCN4A):c.4351C>T (p.Arg1451Cys)
NM_000334.4(SCN4A):c.4665del (p.Asn1556fs)
NM_000334.4(SCN4A):c.4776G>A (p.Met1592Ile)	rs886041805
NM_000334.4(SCN4A):c.5061_5062insAGGTGACT (p.Leu1688delinsArgTer)
NM_000334.4(SCN4A):c.5104G>A (p.Glu1702Lys)	rs1555600605
NM_000334.4(SCN4A):c.5431_5434dup (p.Pro1812fs)
NM_000334.4(SCN4A):c.881G>A (p.Trp294Ter)
NM_000334.4(SCN4A):c.936G>A (p.Trp312Ter)
NM_000540.3(RYR1):c.10828G>T (p.Glu3610Ter)
NM_000540.3(RYR1):c.11608+1G>A
NM_000540.3(RYR1):c.1198G>A (p.Ala400Thr)	rs777016690
NM_000540.3(RYR1):c.12095-2A>G
NM_000540.3(RYR1):c.12319del (p.Ile4107fs)	rs754572007
NM_000540.3(RYR1):c.12499G>T (p.Glu4167Ter)	rs772494345
NM_000540.3(RYR1):c.12978del (p.Glu4327fs)	rs1568582893
NM_000540.3(RYR1):c.130C>T (p.Arg44Cys)	rs193922748
NM_000540.3(RYR1):c.14210G>A (p.Arg4737Gln)	rs193922868
NM_000540.3(RYR1):c.14677C>T (p.Arg4893Trp)	rs118192150
NM_000540.3(RYR1):c.14678G>T (p.Arg4893Leu)
NM_000540.3(RYR1):c.14761TTC[3] (p.Phe4924del)	rs1064794572
NM_000540.3(RYR1):c.2287G>A (p.Val763Met)	rs369947687
NM_000540.3(RYR1):c.2449C>T (p.Arg817Ter)
NM_000540.3(RYR1):c.2984G>A (p.Trp995Ter)	rs1440262870
NM_000540.3(RYR1):c.3382-1G>A
NM_000540.3(RYR1):c.3494G>A (p.Gly1165Asp)	rs559581937
NM_000540.3(RYR1):c.3964_3982dup (p.Asp1328fs)	rs1281542312
NM_000540.3(RYR1):c.742G>T (p.Gly248Trp)	rs1801086
NM_000540.3(RYR1):c.7835+1G>A	rs1057524858
NM_000540.3(RYR1):c.7836-1G>A	rs1568507354
NM_000540.3(RYR1):c.7927-1G>T
NM_000540.3(RYR1):c.7954dup (p.Trp2652fs)	rs1600842678
NM_000540.3(RYR1):c.8196del (p.Gly2733fs)	rs1600844997
NM_000540.3(RYR1):c.8541+1del
NM_000540.3(RYR1):c.8929_8932+4delinsAAGCGG	rs1555786205
NM_000540.3(RYR1):c.9625C>T (p.Gln3209Ter)
NM_000540.3(RYR1):c.9886del (p.Leu3296fs)
NM_019098.5(CNGB3):c.1005dup (p.Glu336Ter)	rs1554611860
NM_019098.5(CNGB3):c.1055+2T>G
NM_019098.5(CNGB3):c.105_114del (p.Gln36fs)	rs1586047969
NM_019098.5(CNGB3):c.127C>T (p.Gln43Ter)
NM_019098.5(CNGB3):c.129+1G>A
NM_019098.5(CNGB3):c.1480+1G>A	rs1057516825
NM_019098.5(CNGB3):c.1516del (p.Val506fs)	rs768735888
NM_019098.5(CNGB3):c.1662+2T>C
NM_019098.5(CNGB3):c.1663-5T>G	rs964530890
NM_019098.5(CNGB3):c.1870del (p.Leu624fs)
NM_019098.5(CNGB3):c.1929-2A>G	rs1057517388
NM_019098.5(CNGB3):c.2103+1G>A	rs1554604767
NM_019098.5(CNGB3):c.2103+1G>T
NM_019098.5(CNGB3):c.2143G>T (p.Glu715Ter)
NM_019098.5(CNGB3):c.2164G>T (p.Glu722Ter)
NM_019098.5(CNGB3):c.2179_2182del (p.Gln727fs)	rs1821654702
NM_019098.5(CNGB3):c.2221del (p.Asp741fs)	rs1554604552
NM_019098.5(CNGB3):c.2301_2304dup (p.Ser769fs)	rs199570140
NM_019098.5(CNGB3):c.238G>T (p.Gly80Ter)
NM_019098.5(CNGB3):c.412del (p.Arg138fs)	rs1057516791
NM_019098.5(CNGB3):c.494-1G>A
NM_019098.5(CNGB3):c.643+1G>A
NM_019098.5(CNGB3):c.662G>A (p.Trp221Ter)
NM_019098.5(CNGB3):c.798T>G (p.Tyr266Ter)
NM_019098.5(CNGB3):c.839dup (p.Gly281fs)	rs1281085210

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