ClinVar Miner

List of variants reported as pathogenic for Hyperkalemic periodic paralysis by Labcorp Genetics (formerly Invitae), Labcorp

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Total variants: 82
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HGVS dbSNP gnomAD frequency
NM_000334.4(SCN4A):c.3386G>A (p.Arg1129Gln) rs527236149 0.00003
NM_000334.4(SCN4A):c.3466G>A (p.Ala1156Thr) rs80338958 0.00003
NM_000334.4(SCN4A):c.4364T>C (p.Ile1455Thr) rs377176361 0.00002
NM_000334.4(SCN4A):c.608T>A (p.Met203Lys) rs933258893 0.00002
NM_000334.4(SCN4A):c.1249C>T (p.Arg417Ter) rs943370469 0.00001
NM_000334.4(SCN4A):c.1333G>C (p.Val445Leu) rs121908552 0.00001
NM_000334.4(SCN4A):c.2006G>A (p.Arg669His) rs80338784 0.00001
NM_000334.4(SCN4A):c.2023C>T (p.Arg675Trp) rs121908556 0.00001
NM_000334.4(SCN4A):c.2024G>A (p.Arg675Gln) rs121908557 0.00001
NM_000334.4(SCN4A):c.3395G>A (p.Arg1132Gln) rs80338789 0.00001
NM_000334.4(SCN4A):c.3877G>A (p.Val1293Ile) rs121908551 0.00001
NM_000334.4(SCN4A):c.3917G>C (p.Gly1306Ala) rs80338792 0.00001
NM_000334.4(SCN4A):c.4388G>A (p.Arg1463His) rs771340029 0.00001
NM_000334.4(SCN4A):c.4484T>C (p.Ile1495Thr) rs1318966106 0.00001
NM_000334.4(SCN4A):c.584G>A (p.Trp195Ter) rs1331907655 0.00001
NM_000334.4(SCN4A):c.664C>T (p.Arg222Trp) rs527236148 0.00001
NM_000334.4(SCN4A):c.918G>A (p.Trp306Ter) rs759347899 0.00001
NC_000017.10:g.(?_62024385)_(62034898_?)del
NM_000334.4(SCN4A):c.1049_1053del (p.Tyr349_Phe350insTer)
NM_000334.4(SCN4A):c.1125C>A (p.Cys375Ter)
NM_000334.4(SCN4A):c.1173del (p.Phe392fs) rs1235665641
NM_000334.4(SCN4A):c.1320T>G (p.Asn440Lys) rs864622785
NM_000334.4(SCN4A):c.1331C>A (p.Ala444Asp)
NM_000334.4(SCN4A):c.1333G>A (p.Val445Met) rs121908552
NM_000334.4(SCN4A):c.1495del (p.Asp499fs)
NM_000334.4(SCN4A):c.1641G>A (p.Trp547Ter)
NM_000334.4(SCN4A):c.1800C>G (p.Tyr600Ter) rs778746718
NM_000334.4(SCN4A):c.1905C>A (p.Tyr635Ter)
NM_000334.4(SCN4A):c.1925G>A (p.Trp642Ter)
NM_000334.4(SCN4A):c.2014C>A (p.Arg672Ser) rs80338785
NM_000334.4(SCN4A):c.2014C>G (p.Arg672Gly) rs80338785
NM_000334.4(SCN4A):c.2014C>T (p.Arg672Cys) rs80338785
NM_000334.4(SCN4A):c.2015G>A (p.Arg672His) rs80338788
NM_000334.4(SCN4A):c.2023C>G (p.Arg675Gly) rs121908556
NM_000334.4(SCN4A):c.2076C>G (p.Ile692Met) rs1224997537
NM_000334.4(SCN4A):c.2078T>C (p.Ile693Thr) rs80338956
NM_000334.4(SCN4A):c.2111C>T (p.Thr704Met) rs80338957
NM_000334.4(SCN4A):c.2143G>A (p.Ala715Thr) rs749400108
NM_000334.4(SCN4A):c.2143G>C (p.Ala715Pro) rs749400108
NM_000334.4(SCN4A):c.215dup (p.Pro73fs) rs1909650741
NM_000334.4(SCN4A):c.2386C>G (p.Leu796Val) rs750053946
NM_000334.4(SCN4A):c.2411C>T (p.Ser804Phe) rs121908546
NM_000334.4(SCN4A):c.2614dup (p.Glu872fs) rs1908916380
NM_000334.4(SCN4A):c.2830_2831del (p.Phe944fs) rs2144786506
NM_000334.4(SCN4A):c.2919del (p.Glu974fs) rs1567819905
NM_000334.4(SCN4A):c.3175C>T (p.Arg1059Ter)
NM_000334.4(SCN4A):c.3263dup (p.Phe1089fs) rs2144782598
NM_000334.4(SCN4A):c.3394C>G (p.Arg1132Gly) rs778176181
NM_000334.4(SCN4A):c.3397del (p.Ala1133fs)
NM_000334.4(SCN4A):c.3404G>A (p.Arg1135His) rs527236150
NM_000334.4(SCN4A):c.3425G>A (p.Arg1142Gln) rs780703403
NM_000334.4(SCN4A):c.3472C>T (p.Pro1158Ser) rs121908555
NM_000334.4(SCN4A):c.3478A>G (p.Ile1160Val) rs121908549
NM_000334.4(SCN4A):c.3607del (p.Val1203fs)
NM_000334.4(SCN4A):c.3917G>A (p.Gly1306Glu) rs80338792
NM_000334.4(SCN4A):c.3917G>T (p.Gly1306Val) rs80338792
NM_000334.4(SCN4A):c.3929T>A (p.Ile1310Asn) rs1567817380
NM_000334.4(SCN4A):c.3937A>G (p.Thr1313Ala)
NM_000334.4(SCN4A):c.3938C>T (p.Thr1313Met) rs121908547
NM_000334.4(SCN4A):c.4078A>G (p.Met1360Val) rs80338959
NM_000334.4(SCN4A):c.4108A>G (p.Met1370Val) rs80338960
NM_000334.4(SCN4A):c.4300T>C (p.Ser1434Pro) rs1567816549
NM_000334.4(SCN4A):c.4307T>C (p.Leu1436Pro) rs1598405334
NM_000334.4(SCN4A):c.4342C>G (p.Arg1448Gly) rs121908544
NM_000334.4(SCN4A):c.4342C>T (p.Arg1448Cys) rs121908544
NM_000334.4(SCN4A):c.4343G>A (p.Arg1448His) rs121908545
NM_000334.4(SCN4A):c.4343G>C (p.Arg1448Pro) rs121908545
NM_000334.4(SCN4A):c.4354_4369del (p.Leu1452fs)
NM_000334.4(SCN4A):c.4372G>T (p.Val1458Phe) rs1199222144
NM_000334.4(SCN4A):c.4426A>G (p.Met1476Val) rs1567816461
NM_000334.4(SCN4A):c.4427T>C (p.Met1476Thr) rs1064795409
NM_000334.4(SCN4A):c.4428G>A (p.Met1476Ile) rs121908559
NM_000334.4(SCN4A):c.4442C>A (p.Ala1481Asp) rs763893717
NM_000334.4(SCN4A):c.4472del (p.Leu1491fs)
NM_000334.4(SCN4A):c.4765G>A (p.Val1589Met) rs121908548
NM_000334.4(SCN4A):c.4774A>G (p.Met1592Val) rs80338962
NM_000334.4(SCN4A):c.4776G>A (p.Met1592Ile) rs886041805
NM_000334.4(SCN4A):c.5104G>A (p.Glu1702Lys) rs1555600605
NM_000334.4(SCN4A):c.5113T>A (p.Phe1705Ile) rs1064794243
NM_000334.4(SCN4A):c.644T>C (p.Ile215Thr) rs1555604867
NM_000334.4(SCN4A):c.749T>C (p.Leu250Pro) rs1057521065
NM_000334.4(SCN4A):c.808C>A (p.Gln270Lys) rs1597985462

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