ClinVar Miner

List of variants in gene GALC reported as benign by Illumina Clinical Services Laboratory,Illumina

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 17
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HGVS dbSNP
NM_000153.4(GALC):c.*1186_*1188del rs141199615
NM_000153.4(GALC):c.*1275G>A rs1042042
NM_000153.4(GALC):c.*1453A>G rs405567
NM_000153.4(GALC):c.*1588T>G rs17198
NM_000153.4(GALC):c.*590T>C rs1042029
NM_000153.4(GALC):c.*626C>T rs432946
NM_000153.4(GALC):c.*627A>G rs413750
NM_000153.4(GALC):c.*723G>A rs412915
NM_000153.4(GALC):c.*989G>A rs370559
NM_000153.4(GALC):c.1162-4del rs11300320
NM_000153.4(GALC):c.1350C>T (p.Ser450=) rs398076
NM_000153.4(GALC):c.1671-15C>T rs12432149
NM_000153.4(GALC):c.1685T>C (p.Ile562Thr) rs398607
NM_000153.4(GALC):c.1698A>T (p.Val566=) rs421466
NM_000153.4(GALC):c.1834+5C>G rs448805
NM_000153.4(GALC):c.1921A>G (p.Thr641Ala) rs421262
NM_000153.4(GALC):c.984G>A (p.Gln328=) rs12888666

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