ClinVar Miner

List of variants in gene combination GH-LCR, SCN4A studied for not provided

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Total variants: 117
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HGVS dbSNP
NM_000334.4(SCN4A):c.2023C>T (p.Arg675Trp) rs121908556
NM_000334.4(SCN4A):c.2024G>A (p.Arg675Gln) rs121908557
NM_000334.4(SCN4A):c.2065C>T (p.Leu689Phe) rs80338955
NM_000334.4(SCN4A):c.2078T>C (p.Ile693Thr) rs80338956
NM_000334.4(SCN4A):c.2083A>G (p.Asn695Asp) rs1327920743
NM_000334.4(SCN4A):c.2111C>T (p.Thr704Met) rs80338957
NM_000334.4(SCN4A):c.2150T>C (p.Val717Ala) rs1567823095
NM_000334.4(SCN4A):c.2185T>C (p.Cys729Arg) rs200025736
NM_000334.4(SCN4A):c.2234A>G (p.His745Arg) rs762279435
NM_000334.4(SCN4A):c.2254C>T (p.Leu752Phe) rs1567823019
NM_000334.4(SCN4A):c.2292G>A (p.Glu764=) rs1555603112
NM_000334.4(SCN4A):c.2341G>A (p.Val781Ile) rs62070884
NM_000334.4(SCN4A):c.2346C>A (p.Phe782Leu) rs745492332
NM_000334.4(SCN4A):c.2350A>G (p.Met784Val) rs1567822938
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.2478C>T (p.Ile826=) rs371914255
NM_000334.4(SCN4A):c.2623C>T (p.Pro875Ser) rs201148948
NM_000334.4(SCN4A):c.2697G>A (p.Leu899=) rs199827271
NM_000334.4(SCN4A):c.2721C>T (p.Leu907=) rs376432808
NM_000334.4(SCN4A):c.2722G>A (p.Glu908Lys) rs117664682
NM_000334.4(SCN4A):c.2748C>G (p.Asn916Lys) rs115379510
NM_000334.4(SCN4A):c.2778C>T (p.Ile926=)
NM_000334.4(SCN4A):c.2809A>C (p.Thr937Pro) rs752396330
NM_000334.4(SCN4A):c.2846A>G (p.Asp949Gly) rs1555602253
NM_000334.4(SCN4A):c.2854-153A>G
NM_000334.4(SCN4A):c.2874T>A (p.Tyr958Ter) rs1567819954
NM_000334.4(SCN4A):c.2890G>A (p.Val964Ile) rs200947169
NM_000334.4(SCN4A):c.3136G>T (p.Gly1046Trp) rs759982229
NM_000334.4(SCN4A):c.3145-164C>T
NM_000334.4(SCN4A):c.3205G>A (p.Asp1069Asn) rs373150395
NM_000334.4(SCN4A):c.3285C>T (p.Asn1095=)
NM_000334.4(SCN4A):c.3286G>C (p.Ala1096Pro)
NM_000334.4(SCN4A):c.3288C>T (p.Ala1096=)
NM_000334.4(SCN4A):c.3386G>A (p.Arg1129Gln) rs527236149
NM_000334.4(SCN4A):c.3395G>A (p.Arg1132Gln) rs80338789
NM_000334.4(SCN4A):c.3404G>A (p.Arg1135His) rs527236150
NM_000334.4(SCN4A):c.3430G>A (p.Glu1144Lys)
NM_000334.4(SCN4A):c.3441+164G>C
NM_000334.4(SCN4A):c.3442-130G>A
NM_000334.4(SCN4A):c.3466G>A (p.Ala1156Thr) rs80338958
NM_000334.4(SCN4A):c.3466G>T (p.Ala1156Ser) rs80338958
NM_000334.4(SCN4A):c.3472C>T (p.Pro1158Ser) rs121908555
NM_000334.4(SCN4A):c.3473C>T (p.Pro1158Leu) rs1555601448
NM_000334.4(SCN4A):c.3478A>G (p.Ile1160Val) rs121908549
NM_000334.4(SCN4A):c.3576C>T (p.Thr1192=)
NM_000334.4(SCN4A):c.3622G>C (p.Glu1208Gln) rs754401226
NM_000334.4(SCN4A):c.3688G>A (p.Val1230Met) rs778820577
NM_000334.4(SCN4A):c.3774+20A>G rs377552760
NM_000334.4(SCN4A):c.3774+8G>A rs374806849
NM_000334.4(SCN4A):c.3774+9G>A
NM_000334.4(SCN4A):c.3781G>T (p.Glu1261Ter) rs752611838
NM_000334.4(SCN4A):c.3835A>G (p.Ile1279Val) rs367610608
NM_000334.4(SCN4A):c.3871A>G (p.Ile1291Val)
NM_000334.4(SCN4A):c.3877G>A (p.Val1293Ile) rs121908551
NM_000334.4(SCN4A):c.3893T>G (p.Phe1298Cys) rs886043595
NM_000334.4(SCN4A):c.3898_3900CAG[1] (p.Gln1301del) rs752135284
NM_000334.4(SCN4A):c.3912+277G>A
NM_000334.4(SCN4A):c.3912+91G>A
NM_000334.4(SCN4A):c.3913-164G>A
NM_000334.4(SCN4A):c.3917G>A (p.Gly1306Glu) rs80338792
NM_000334.4(SCN4A):c.3917G>C (p.Gly1306Ala) rs80338792
NM_000334.4(SCN4A):c.3917G>T (p.Gly1306Val) rs80338792
NM_000334.4(SCN4A):c.3936G>C (p.Met1312Ile) rs1567817375
NM_000334.4(SCN4A):c.3938C>T (p.Thr1313Met) rs121908547
NM_000334.4(SCN4A):c.3963C>T (p.Asn1321=) rs747602881
NM_000334.4(SCN4A):c.3992C>T (p.Pro1331Leu) rs1567817335
NM_000334.4(SCN4A):c.4009C>T (p.Arg1337Trp) rs779717594
NM_000334.4(SCN4A):c.4010G>A (p.Arg1337Gln) rs779953580
NM_000334.4(SCN4A):c.4017+240T>C
NM_000334.4(SCN4A):c.4017+268C>T
NM_000334.4(SCN4A):c.4018-222A>T
NM_000334.4(SCN4A):c.4018-246_4018-245insAGGGGGTCCCCGGGGAGG
NM_000334.4(SCN4A):c.4031G>C (p.Gly1344Ala)
NM_000334.4(SCN4A):c.4052C>T (p.Thr1351Met) rs545724550
NM_000334.4(SCN4A):c.4065C>A (p.Phe1355Leu) rs578214396
NM_000334.4(SCN4A):c.4080G>T (p.Met1360Ile)
NM_000334.4(SCN4A):c.4088T>A (p.Ile1363Asn) rs1567817027
NM_000334.4(SCN4A):c.4106C>A (p.Thr1369Asn) rs748313755
NM_000334.4(SCN4A):c.4179_4180insCC (p.Ile1394fs) rs1064794596
NM_000334.4(SCN4A):c.4215C>T (p.Leu1405=) rs141215137
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.4343G>T (p.Arg1448Leu)
NM_000334.4(SCN4A):c.4372G>T (p.Val1458Phe) rs1199222144
NM_000334.4(SCN4A):c.4379G>A (p.Arg1460Gln) rs1210934866
NM_000334.4(SCN4A):c.4386C>G (p.Ile1462Met)
NM_000334.4(SCN4A):c.4390G>A (p.Gly1464Arg) rs150423825
NM_000334.4(SCN4A):c.4415T>C (p.Leu1472Pro) rs1057520169
NM_000334.4(SCN4A):c.4420G>A (p.Ala1474Thr)
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.4434G>A (p.Ser1478=) rs753725579
NM_000334.4(SCN4A):c.4463T>C (p.Leu1488Pro) rs1057520846
NM_000334.4(SCN4A):c.4517A>T (p.Tyr1506Phe) rs762311521
NM_000334.4(SCN4A):c.4609G>A (p.Gly1537Ser) rs571210585
NM_000334.4(SCN4A):c.4690G>A (p.Val1564Ile) rs202106192
NM_000334.4(SCN4A):c.4759C>T (p.Leu1587Phe) rs1567816227
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.4776G>T (p.Met1592Ile) rs886041805
NM_000334.4(SCN4A):c.4783G>T (p.Ala1595Ser) rs761947899
NM_000334.4(SCN4A):c.4784C>T (p.Ala1595Val) rs1567816203
NM_000334.4(SCN4A):c.4825A>C (p.Ser1609Arg) rs1555600678
NM_000334.4(SCN4A):c.4905C>T (p.Ile1635=) rs59081944
NM_000334.4(SCN4A):c.4949C>T (p.Pro1650Leu)
NM_000334.4(SCN4A):c.4950G>A (p.Pro1650=)
NM_000334.4(SCN4A):c.5104G>A (p.Glu1702Lys) rs1555600605
NM_000334.4(SCN4A):c.5104_5106GAG[1] (p.Glu1703del) rs1464481652
NM_000334.4(SCN4A):c.5113T>A (p.Phe1705Ile) rs1064794243
NM_000334.4(SCN4A):c.5188T>C (p.Cys1730Arg) rs1567815888
NM_000334.4(SCN4A):c.5366C>T (p.Ser1789Leu)
NM_000334.4(SCN4A):c.5367G>A (p.Ser1789=) rs189230866
NM_000334.4(SCN4A):c.5420_5425del (p.Leu1807_Met1808del) rs781515976
NM_000334.4(SCN4A):c.5499G>A (p.Glu1833=) rs116469710

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