ClinVar Miner

List of variants in gene GALC reported by CeGaT Praxis fuer Humangenetik Tuebingen

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Gene type:
ClinVar version:
Total variants: 15
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NM_000153.4(GALC):c.-318T>C rs556647825
NM_000153.4(GALC):c.1158_1161+6del rs759068540
NM_000153.4(GALC):c.1586C>T (p.Thr529Met) rs200960659
NM_000153.4(GALC):c.1949T>C (p.Leu650Pro) rs1249991480
NM_000153.4(GALC):c.1997T>C (p.Ile666Thr) rs1461381844
NM_000153.4(GALC):c.2041G>A (p.Val681Met) rs200607029
NM_000153.4(GALC):c.329-10_329-8del rs770389075
NM_000153.4(GALC):c.334A>G (p.Thr112Ala) rs147313927
NM_000153.4(GALC):c.391T>C (p.Trp131Arg)
NM_000153.4(GALC):c.41C>G (p.Ala14Gly) rs373587692
NM_000153.4(GALC):c.789A>G (p.Ala263=)
NM_000153.4(GALC):c.908C>T (p.Ser303Phe) rs756352952
NM_000153.4(GALC):c.943del (p.Glu315fs)
NM_000153.4(GALC):c.956A>G (p.Tyr319Cys) rs183105855
NM_001201402.1(GALC):c.9G>T (p.Gly3=) rs185943390

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