ClinVar Miner

List of variants in gene GALC reported as benign by Invitae

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Gene type:
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Total variants: 34
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HGVS dbSNP
NM_000153.4(GALC):c.-318T>C rs556647825
NM_000153.4(GALC):c.1006G>A (p.Val336Met) rs185073540
NM_000153.4(GALC):c.1072C>T (p.Leu358=) rs74073730
NM_000153.4(GALC):c.1162-14dup rs11300320
NM_000153.4(GALC):c.1162-4del rs11300320
NM_000153.4(GALC):c.1236T>A (p.Val412=) rs112531377
NM_000153.4(GALC):c.1251+18A>G
NM_000153.4(GALC):c.1302C>T (p.Ser434=) rs3213918
NM_000153.4(GALC):c.1339-8dup
NM_000153.4(GALC):c.1350C>T (p.Ser450=) rs398076
NM_000153.4(GALC):c.1403C>G (p.Thr468Ser) rs34134328
NM_000153.4(GALC):c.1620= (p.Thr540=) rs367327
NM_000153.4(GALC):c.1620A>G (p.Thr540=) rs367327
NM_000153.4(GALC):c.1632T>C (p.Asp544=) rs9672064
NM_000153.4(GALC):c.1671-15C>T rs12432149
NM_000153.4(GALC):c.1698A>T (p.Val566=) rs421466
NM_000153.4(GALC):c.1731C>T (p.Phe577=) rs201560122
NM_000153.4(GALC):c.1788C>T (p.Phe596=) rs115018138
NM_000153.4(GALC):c.1834+5C>G rs448805
NM_000153.4(GALC):c.1921A>G (p.Thr641Ala) rs421262
NM_000153.4(GALC):c.195+10A>G rs191767015
NM_000153.4(GALC):c.195+19G>A rs189853941
NM_000153.4(GALC):c.328+19T>A rs74337989
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.42G>C (p.Ala14=) rs112992946
NM_000153.4(GALC):c.525C>T (p.Val175=) rs181066089
NM_000153.4(GALC):c.61G>C (p.Ala21Pro) rs111887056
NM_000153.4(GALC):c.753-13_753-12dup
NM_000153.4(GALC):c.75C>A (p.Gly25=) rs111976362
NM_000153.4(GALC):c.913A>G (p.Ile305Val) rs74887188
NM_000153.4(GALC):c.96G>T (p.Leu32=) rs113719127
NM_000153.4(GALC):c.984G>A (p.Gln328=) rs12888666
NM_001201402.2(GALC):c.-128C>T

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