ClinVar Miner

List of variants in gene GALC reported by Natera, Inc.

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 65
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HGVS dbSNP
NM_000153.4(GALC):c.-318T>C rs556647825
NM_000153.4(GALC):c.-63C>G
NM_000153.4(GALC):c.-66G>T
NM_000153.4(GALC):c.-67T>G rs571945132
NM_000153.4(GALC):c.-68C>T rs369469562
NM_000153.4(GALC):c.-80_-75delATCAGC rs564526560
NM_000153.4(GALC):c.1042A>T (p.Thr348Ser)
NM_000153.4(GALC):c.1072C>T (p.Leu358=) rs74073730
NM_000153.4(GALC):c.108G>A (p.Leu36=)
NM_000153.4(GALC):c.1110C>T (p.Tyr370=) rs372793797
NM_000153.4(GALC):c.1114G>A (p.Ala372Thr)
NM_000153.4(GALC):c.114G>T (p.Ala38=) rs749514611
NM_000153.4(GALC):c.1161+9T>C
NM_000153.4(GALC):c.1162-4del rs11300320
NM_000153.4(GALC):c.120C>T (p.Gly40=) rs532800656
NM_000153.4(GALC):c.1272G>A (p.Gln424=) rs376675180
NM_000153.4(GALC):c.1302C>T (p.Ser434=) rs3213918
NM_000153.4(GALC):c.1351G>T (p.Asp451Tyr)
NM_000153.4(GALC):c.1392C>A (p.Phe464Leu)
NM_000153.4(GALC):c.1434G>A (p.Pro478=) rs200231860
NM_000153.4(GALC):c.1436T>C (p.Leu479Pro)
NM_000153.4(GALC):c.1489+3G>A rs186664912
NM_000153.4(GALC):c.1490-7T>A
NM_000153.4(GALC):c.1490-8C>G
NM_000153.4(GALC):c.1541T>C (p.Phe514Ser) rs375867319
NM_000153.4(GALC):c.1567C>A (p.Pro523Thr) rs370952794
NM_000153.4(GALC):c.1573G>A (p.Glu525Lys) rs146286491
NM_000153.4(GALC):c.1586C>T (p.Thr529Met) rs200960659
NM_000153.4(GALC):c.1587G>A (p.Thr529=) rs184748969
NM_000153.4(GALC):c.15A>G (p.Leu5=) rs529350155
NM_000153.4(GALC):c.1629C>T (p.Ala543=) rs201055535
NM_000153.4(GALC):c.1657G>A (p.Gly553Arg) rs748573754
NM_000153.4(GALC):c.1698A>T (p.Val566=) rs421466
NM_000153.4(GALC):c.1700A>C (p.Tyr567Ser) rs752537626
NM_000153.4(GALC):c.1709C>A (p.Thr570Asn)
NM_000153.4(GALC):c.1717A>G (p.Thr573Ala) rs200219480
NM_000153.4(GALC):c.1752A>G (p.Lys584=) rs201016488
NM_000153.4(GALC):c.1758T>C (p.Gly586=)
NM_000153.4(GALC):c.1901T>C (p.Leu634Ser) rs138577661
NM_000153.4(GALC):c.1921A>G (p.Thr641Ala) rs421262
NM_000153.4(GALC):c.226G>A (p.Glu76Lys) rs778447883
NM_000153.4(GALC):c.233A>G (p.Tyr78Cys)
NM_000153.4(GALC):c.235C>T (p.Arg79Cys) rs73312829
NM_000153.4(GALC):c.23C>T (p.Ala8Val) rs376511103
NM_000153.4(GALC):c.328+6A>G rs201977747
NM_000153.4(GALC):c.329-10_329-8del rs770389075
NM_000153.4(GALC):c.330C>T (p.Asp110=) rs11552556
NM_000153.4(GALC):c.397T>C (p.Leu133=) rs56194647
NM_000153.4(GALC):c.41C>G (p.Ala14Gly) rs373587692
NM_000153.4(GALC):c.516C>T (p.Ala172=)
NM_000153.4(GALC):c.525C>T (p.Val175=) rs181066089
NM_000153.4(GALC):c.560A>T (p.Asp187Val) rs997021099
NM_000153.4(GALC):c.583-4G>T
NM_000153.4(GALC):c.597G>T (p.Arg199Ser)
NM_000153.4(GALC):c.628A>T (p.Arg210Ter) rs202131052
NM_000153.4(GALC):c.658C>T (p.Arg220Ter) rs766310671
NM_000153.4(GALC):c.65G>A (p.Gly22Asp)
NM_000153.4(GALC):c.65G>C (p.Gly22Ala)
NM_000153.4(GALC):c.678T>C (p.Ser226=) rs1595226323
NM_000153.4(GALC):c.680A>G (p.Asp227Gly)
NM_000153.4(GALC):c.749T>C (p.Ile250Thr) rs886039569
NM_000153.4(GALC):c.82G>A (p.Ala28Thr)
NM_000153.4(GALC):c.857G>A (p.Gly286Asp) rs199847983
NM_000153.4(GALC):c.909-3del
NM_000153.4(GALC):c.997G>A (p.Gly333Arg) rs190921137

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