ClinVar Miner

List of variants in gene GALT reported as uncertain significance by EGL Genetic Diagnostics,Eurofins Clinical Diagnostics

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Total variants: 52
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HGVS dbSNP
NM_000155.4(GALT):c.1006A>G (p.Met336Val) rs111033810
NM_000155.4(GALT):c.1049C>T (p.Thr350Ile) rs775317639
NM_000155.4(GALT):c.1059+11A>G rs886042405
NM_000155.4(GALT):c.107C>T (p.Pro36Leu) rs111033645
NM_000155.4(GALT):c.1081C>T (p.Leu361Phe) rs886042069
NM_000155.4(GALT):c.134C>T (p.Ser45Leu) rs111033652
NM_000155.4(GALT):c.139C>G (p.His47Asp) rs886042074
NM_000155.4(GALT):c.142C>T (p.Arg48Cys) rs886042088
NM_000155.4(GALT):c.211C>G (p.Leu71Val) rs143994870
NM_000155.4(GALT):c.232G>A (p.Ala78Thr) rs886042063
NM_000155.4(GALT):c.241G>A (p.Ala81Thr) rs111033665
NM_000155.4(GALT):c.277T>A (p.Phe93Ile) rs886042059
NM_000155.4(GALT):c.291C>T (p.Asn97=) rs398123180
NM_000155.4(GALT):c.328+33G>C rs767197888
NM_000155.4(GALT):c.329-19T>C rs886042082
NM_000155.4(GALT):c.341A>C (p.His114Pro) rs111033678
NM_000155.4(GALT):c.377+17C>T rs188599777
NM_000155.4(GALT):c.377+7A>C rs376026879
NM_000155.4(GALT):c.379A>G (p.Lys127Glu) rs111033682
NM_000155.4(GALT):c.387G>A (p.Met129Ile) rs780621729
NM_000155.4(GALT):c.389G>A (p.Cys130Tyr) rs367543255
NM_000155.4(GALT):c.405G>A (p.Ser135=) rs141232328
NM_000155.4(GALT):c.406G>T (p.Asp136Tyr) rs794727699
NM_000155.4(GALT):c.449_451TTG[1] (p.Val151del) rs886043735
NM_000155.4(GALT):c.507+5G>A rs886043775
NM_000155.4(GALT):c.508-12C>G rs727503947
NM_000155.4(GALT):c.520A>C (p.Lys174Gln) rs1564101431
NM_000155.4(GALT):c.539G>A (p.Cys180Tyr) rs111033844
NM_000155.4(GALT):c.562C>A (p.Gln188Lys) rs398123182
NM_000155.4(GALT):c.564+7G>A rs760189807
NM_000155.4(GALT):c.587C>T (p.Pro196Leu) rs886042066
NM_000155.4(GALT):c.605A>C (p.Glu202Ala) rs886042062
NM_000155.4(GALT):c.611G>A (p.Arg204Gln) rs111033740
NM_000155.4(GALT):c.652C>G (p.Leu218Val) rs2070075
NM_000155.4(GALT):c.667C>T (p.Arg223Cys) rs111033750
NM_000155.4(GALT):c.683G>C (p.Arg228Thr) rs373048062
NM_000155.4(GALT):c.74G>C (p.Arg25Pro) rs886042099
NM_000155.4(GALT):c.752A>C (p.Tyr251Ser) rs111033755
NM_000155.4(GALT):c.793C>G (p.Pro265Ala) rs111033764
NM_000155.4(GALT):c.812A>G (p.Glu271Gly) rs111033765
NM_000155.4(GALT):c.815G>A (p.Arg272His) rs111033831
NM_000155.4(GALT):c.817G>C (p.Asp273His) rs886042071
NM_000155.4(GALT):c.820+26G>A rs886042077
NM_000155.4(GALT):c.820+4A>C rs398123186
NM_000155.4(GALT):c.83-3C>G rs794727235
NM_000155.4(GALT):c.833T>C (p.Ile278Thr) rs111033778
NM_000155.4(GALT):c.864C>A (p.Asn288Lys) rs372134800
NM_000155.4(GALT):c.875C>T (p.Thr292Met) rs369227288
NM_000155.4(GALT):c.885_886insATGGCGTCCTTTCCC (p.Tyr296_Ser297insMetAlaSerPhePro) rs886043498
NM_000155.4(GALT):c.893T>C (p.Met298Thr) rs886042064
NM_000155.4(GALT):c.902A>G (p.His301Arg) rs886042065
NM_000155.4(GALT):c.958G>A (p.Ala320Thr) rs111033795

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