ClinVar Miner

List of variants in gene combination GH-LCR, SCN4A reported by CeGaT Center for Human Genetics Tuebingen

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Total variants: 57
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HGVS dbSNP gnomAD frequency
NM_000334.4(SCN4A):c.2341G>A (p.Val781Ile) rs62070884 0.00873
NM_000334.4(SCN4A):c.4215C>T (p.Leu1405=) rs141215137 0.00153
NM_000334.4(SCN4A):c.2623C>T (p.Pro875Ser) rs201148948 0.00134
NM_000334.4(SCN4A):c.2854-5C>T rs374039266 0.00133
NM_000334.4(SCN4A):c.2890G>A (p.Val964Ile) rs200947169 0.00117
NM_000334.4(SCN4A):c.4690G>A (p.Val1564Ile) rs202106192 0.00108
NM_000334.4(SCN4A):c.2697G>A (p.Leu899=) rs199827271 0.00044
NM_000334.4(SCN4A):c.3429C>T (p.Phe1143=) rs373597946 0.00038
NM_000334.4(SCN4A):c.5181G>A (p.Glu1727=) rs368263333 0.00027
NM_000334.4(SCN4A):c.4083C>A (p.Ile1361=) rs374480468 0.00011
NM_000334.4(SCN4A):c.5468C>G (p.Pro1823Arg) rs376833596 0.00010
NM_000334.4(SCN4A):c.2340C>T (p.Thr780=) rs375349902 0.00009
NM_000334.4(SCN4A):c.3136G>T (p.Gly1046Trp) rs759982229 0.00009
NM_000334.4(SCN4A):c.4719C>T (p.Ile1573=) rs562551941 0.00006
NM_000334.4(SCN4A):c.4864G>A (p.Glu1622Lys) rs369430918 0.00006
NM_000334.4(SCN4A):c.5367G>A (p.Ser1789=) rs189230866 0.00004
NM_000334.4(SCN4A):c.3371C>A (p.Pro1124His) rs924313348 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.4949C>T (p.Pro1650Leu) rs774183791 0.00002
NM_000334.4(SCN4A):c.2023C>T (p.Arg675Trp) rs121908556 0.00001
NM_000334.4(SCN4A):c.3038G>A (p.Arg1013His) rs578232775 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.4106C>A (p.Thr1369Asn) rs748313755 0.00001
NM_000334.4(SCN4A):c.4816G>A (p.Glu1606Lys) rs1170400020 0.00001
NM_000334.4(SCN4A):c.4995C>T (p.Asp1665=) rs750776495 0.00001
NM_000334.4(SCN4A):c.5000C>T (p.Pro1667Leu) rs765721076 0.00001
NM_000334.4(SCN4A):c.2023C>G (p.Arg675Gly) rs121908556
NM_000334.4(SCN4A):c.2065C>A (p.Leu689Ile) rs80338955
NM_000334.4(SCN4A):c.2065C>T (p.Leu689Phe) rs80338955
NM_000334.4(SCN4A):c.2131G>A (p.Val711Met)
NM_000334.4(SCN4A):c.2350A>G (p.Met784Val) rs1567822938
NM_000334.4(SCN4A):c.2580G>A (p.Glu860=)
NM_000334.4(SCN4A):c.2593G>A (p.Gly865Arg) rs752159625
NM_000334.4(SCN4A):c.2689A>G (p.Met897Val)
NM_000334.4(SCN4A):c.2835A>C (p.Ser945=) rs1597973422
NM_000334.4(SCN4A):c.2846A>G (p.Asp949Gly) rs1555602253
NM_000334.4(SCN4A):c.3404G>A (p.Arg1135His) rs527236150
NM_000334.4(SCN4A):c.3487G>A (p.Val1163Met)
NM_000334.4(SCN4A):c.3539A>G (p.Asn1180Ser) rs1908688683
NM_000334.4(SCN4A):c.3657C>T (p.Arg1219=)
NM_000334.4(SCN4A):c.3774+1G>T rs2144778785
NM_000334.4(SCN4A):c.3898CAG[1] (p.Gln1301del) rs752135284
NM_000334.4(SCN4A):c.3913T>C (p.Leu1305=)
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.4089C>T (p.Ile1363=)
NM_000334.4(SCN4A):c.4307T>C (p.Leu1436Pro) rs1598405334
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.4539C>T (p.Ile1513=) rs56342400
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.4783G>T (p.Ala1595Ser) rs761947899
NM_000334.4(SCN4A):c.4819G>A (p.Glu1607Lys)
NM_000334.4(SCN4A):c.5113T>A (p.Phe1705Ile) rs1064794243

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