ClinVar Miner

List of variants in gene GALC reported as uncertain significance for not provided

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Total variants: 28
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HGVS dbSNP
GRCh37/hg19 14q31.3(chr14:88399247-88419358)x1
NM_000153.3(GALC):c.-223C>T rs181004720
NM_000153.3(GALC):c.1158_1161+6delCATGGTAAAC rs759068540
NM_000153.3(GALC):c.1355G>A (p.Gly452Asp) rs1057520151
NM_000153.3(GALC):c.1567C>A (p.Pro523Thr) rs370952794
NM_000153.3(GALC):c.1717A>G (p.Thr573Ala) rs200219480
NM_000153.3(GALC):c.1912G>A (p.Gly638Ser) rs769851272
NM_000153.3(GALC):c.226G>A (p.Glu76Lys) rs778447883
NM_000153.3(GALC):c.266C>T (p.Pro89Leu) rs201422931
NM_000153.3(GALC):c.308G>T (p.Gly103Val)
NM_000153.3(GALC):c.328+3A>G rs377682096
NM_000153.3(GALC):c.334A>G (p.Thr112Ala) rs147313927
NM_000153.3(GALC):c.349A>G (p.Met117Val) rs145580093
NM_000153.3(GALC):c.41C>G (p.Ala14Gly) rs373587692
NM_000153.3(GALC):c.428A>G (p.Asn143Ser) rs753623482
NM_000153.3(GALC):c.49A>G (p.Met17Val) rs376662045
NM_000153.3(GALC):c.500A>G (p.Asn167Ser) rs768993170
NM_000153.3(GALC):c.525C>T (p.Val175=) rs181066089
NM_000153.3(GALC):c.53C>T (p.Thr18Ile) rs755139799
NM_000153.3(GALC):c.583-6T>A rs398123176
NM_000153.3(GALC):c.592G>A (p.Glu198Lys)
NM_000153.3(GALC):c.742G>A (p.Asp248Asn) rs34362748
NM_000153.3(GALC):c.788C>G (p.Ala263Gly) rs1292976689
NM_000153.3(GALC):c.909-10A>G rs398123178
NM_000153.3(GALC):c.956A>G (p.Tyr319Cys) rs183105855
NM_000153.3(GALC):c.973A>G (p.Met325Val) rs772190761
NM_000153.4(GALC):c.-318T>C
NM_001201402.1(GALC):c.9G>T (p.Gly3=) rs185943390

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