ClinVar Miner

List of variants reported as likely benign for galactosemia by Illumina Laboratory Services, Illumina

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 16
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HGVS dbSNP gnomAD frequency
NM_000155.4(GALT):c.940A>G (p.Asn314Asp) rs2070074 0.07150
NM_001008216.2(GALE):c.-77+311C>T rs113324056 0.03995
NM_000213.5(ITGB4):c.*4C>T rs189610725 0.00703
NM_000155.4(GALT):c.*148T>C rs115985083 0.00597
NM_000155.4(GALT):c.*147A>G rs73501024 0.00548
NM_001008216.2(GALE):c.-77+241C>G rs566996145 0.00470
NM_000155.4(GALT):c.879C>T (p.Ser293=) rs115527942 0.00407
NM_000154.2(GALK1):c.*32C>T rs116845474 0.00367
NM_000154.2(GALK1):c.1107+5G>A rs201663491 0.00297
NM_001008216.2(GALE):c.772C>T (p.Leu258=) rs147618796 0.00283
NM_001008216.2(GALE):c.912G>A (p.Val304=) rs143694860 0.00244
NM_000154.2(GALK1):c.1119C>T (p.Gly373=) rs73997615 0.00237
NM_001008216.2(GALE):c.879G>A (p.Pro293=) rs142332521 0.00203
NM_001008216.2(GALE):c.873+13G>C rs760941 0.00124
NM_001008216.2(GALE):c.*195T>C rs78587342 0.00066
NM_000154.2(GALK1):c.987G>A (p.Val329=) rs184160171 0.00018

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