ClinVar Miner

List of variants in gene GALK1 reported as benign for carbohydrate metabolism disease

Included ClinVar conditions (161):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 11
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HGVS dbSNP
NM_000154.2(GALK1):c.-22T>C rs545362817
NM_000154.2(GALK1):c.1107+5G>A rs201663491
NM_000154.2(GALK1):c.1167G>A (p.Val389=) rs150586960
NM_000154.2(GALK1):c.189G>A (p.Leu63=) rs7211385
NM_000154.2(GALK1):c.611+9C>T rs370204015
NM_000154.2(GALK1):c.840C>T (p.His280=) rs375779311
NM_000154.2(GALK1):c.857G>A (p.Arg286Gln) rs145641205
NM_000154.2(GALK1):c.864G>C (p.Thr288=) rs201247556
NM_000154.2(GALK1):c.934C>T (p.Arg312Cys) rs201972845
NM_000154.2(GALK1):c.957G>A (p.Glu319=) rs76160162
NM_000154.2(GALK1):c.987G>A (p.Val329=) rs184160171

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