ClinVar Miner

List of variants in gene combination GH-LCR, SCN4A reported by CeGaT Praxis fuer Humangenetik Tuebingen

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Total variants: 8
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HGVS dbSNP
NM_000334.4(SCN4A):c.2065C>T (p.Leu689Phe) rs80338955
NM_000334.4(SCN4A):c.2350A>G (p.Met784Val) rs1567822938
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.2846A>G (p.Asp949Gly) rs1555602253
NM_000334.4(SCN4A):c.3898_3900CAG[1] (p.Gln1301del) rs752135284
NM_000334.4(SCN4A):c.4106C>A (p.Thr1369Asn) rs748313755
NM_000334.4(SCN4A):c.4783G>T (p.Ala1595Ser) rs761947899

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