ClinVar Miner

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

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Total variants: 32
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HGVS dbSNP gnomAD frequency
NM_000153.4(GALC):c.334A>G (p.Thr112Ala) rs147313927 0.00229
NM_000153.4(GALC):c.659G>A (p.Arg220Gln) rs199967869 0.00107
NM_000153.4(GALC):c.235C>T (p.Arg79Cys) rs73312829 0.00041
NM_000153.4(GALC):c.49A>G (p.Met17Val) rs376662045 0.00029
NM_000153.4(GALC):c.266C>T (p.Pro89Leu) rs201422931 0.00014
NM_000153.4(GALC):c.206G>A (p.Arg69Gln) rs371523347 0.00006
NM_000153.4(GALC):c.1709C>A (p.Thr570Asn) rs540808138 0.00004
NM_000153.4(GALC):c.2041G>A (p.Val681Met) rs200607029 0.00004
NM_000153.4(GALC):c.226G>A (p.Glu76Lys) rs778447883 0.00004
NM_000153.4(GALC):c.500A>G (p.Asn167Ser) rs768993170 0.00004
NM_000153.4(GALC):c.2035T>C (p.Phe679Leu) rs779202612 0.00003
NM_000153.4(GALC):c.*12G>A rs372641636 0.00001
NM_000153.4(GALC):c.1187G>A (p.Arg396Gln) rs887930208 0.00001
NM_000153.4(GALC):c.1489+9T>C rs747839251 0.00001
NM_000153.4(GALC):c.1895T>C (p.Leu632Pro) rs1418694289 0.00001
NM_000153.4(GALC):c.1912G>A (p.Gly638Ser) rs769851272 0.00001
NM_000153.4(GALC):c.1949T>C (p.Leu650Pro) rs1249991480 0.00001
NM_000153.4(GALC):c.251A>G (p.Asp84Gly) rs1555383882 0.00001
NM_000153.4(GALC):c.486C>A (p.Asp162Glu) rs767286511 0.00001
NM_000153.4(GALC):c.869G>A (p.Arg290His) rs746806459 0.00001
GRCh37/hg19 14q31.3(chr14:88399622-88422569)
NM_000153.3(GALC):c.-66G>C
NM_000153.4(GALC):c.-80_-75delATCAGC rs564526560
NM_000153.4(GALC):c.1065G>T (p.Trp355Cys)
NM_000153.4(GALC):c.1114G>T (p.Ala372Ser) rs759286485
NM_000153.4(GALC):c.1151T>C (p.Ile384Thr)
NM_000153.4(GALC):c.1162-4T>A rs774455523
NM_000153.4(GALC):c.1199C>T (p.Pro400Leu)
NM_000153.4(GALC):c.621G>A (p.Lys207=) rs1428763453
NM_000153.4(GALC):c.691G>A (p.Glu231Lys) rs542231350
NM_000153.4(GALC):c.757C>T (p.His253Tyr)
NM_000153.4(GALC):c.973A>G (p.Met325Val) rs772190761

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