ClinVar Miner

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

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 5
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HGVS dbSNP
NM_000153.3(GALC):c.1158_1161+6delCATGGTAAAC rs759068540
NM_000153.4(GALC):c.41C>G (p.Ala14Gly) rs373587692
NM_000153.4(GALC):c.956A>G (p.Tyr319Cys) rs183105855
NM_001201402.1(GALC):c.18T>C (p.His6=) rs556647825
NM_001201402.1(GALC):c.9G>T (p.Gly3=) rs185943390

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