ClinVar Miner

List of variants in gene combination GH-LCR, SCN4A reported as likely pathogenic by GeneDx

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Gene type:
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Total variants: 14
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HGVS dbSNP gnomAD frequency
NM_000334.4(SCN4A):c.4387C>A (p.Arg1463Ser) rs774453167 0.00003
NM_000334.4(SCN4A):c.3688G>A (p.Val1230Met) rs778820577 0.00002
NM_000334.4(SCN4A):c.4364T>C (p.Ile1455Thr) rs377176361 0.00002
NM_000334.4(SCN4A):c.2023C>T (p.Arg675Trp) rs121908556 0.00001
NM_000334.4(SCN4A):c.4484T>C (p.Ile1495Thr) rs1318966106 0.00001
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.2874T>A (p.Tyr958Ter) rs1567819954
NM_000334.4(SCN4A):c.4179_4180insCC (p.Ile1394fs) rs1064794596
NM_000334.4(SCN4A):c.4372G>T (p.Val1458Phe) rs1199222144
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.4776G>A (p.Met1592Ile) rs886041805
NM_000334.4(SCN4A):c.5113T>A (p.Phe1705Ile) rs1064794243

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