ClinVar Miner

List of variants in gene combination GH-LCR, SCN4A reported as uncertain significance by EGL Genetic Diagnostics,Eurofins Clinical Diagnostics

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Gene type:
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Total variants: 12
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HGVS dbSNP
NM_000334.4(SCN4A):c.2292G>A (p.Glu764=) rs1555603112
NM_000334.4(SCN4A):c.2478C>T (p.Ile826=) rs371914255
NM_000334.4(SCN4A):c.2721C>T (p.Leu907=) rs376432808
NM_000334.4(SCN4A):c.2809A>C (p.Thr937Pro) rs752396330
NM_000334.4(SCN4A):c.3205G>A (p.Asp1069Asn) rs373150395
NM_000334.4(SCN4A):c.3386G>A (p.Arg1129Gln) rs527236149
NM_000334.4(SCN4A):c.3774+8G>A rs374806849
NM_000334.4(SCN4A):c.3893T>G (p.Phe1298Cys) rs886043595
NM_000334.4(SCN4A):c.4434G>A (p.Ser1478=) rs753725579
NM_000334.4(SCN4A):c.4690G>A (p.Val1564Ile) rs202106192
NM_000334.4(SCN4A):c.5366C>T (p.Ser1789Leu)
NM_000334.4(SCN4A):c.5367G>A (p.Ser1789=) rs189230866

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