ClinVar Miner

List of variants in gene GALT reported by Illumina Clinical Services Laboratory,Illumina

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Gene type:
ClinVar version:
Total variants: 14
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HGVS dbSNP
NM_000155.3(GALT):c.*147A>G rs73501024
NM_000155.3(GALT):c.-38G>A rs886063883
NM_000155.3(GALT):c.450T>A (p.Val150=) rs886063884
NM_000155.3(GALT):c.510C>A (p.Ile170=) rs61735984
NM_000155.3(GALT):c.611G>A (p.Arg204Gln) rs111033740
NM_000155.3(GALT):c.652C>T (p.Leu218=) rs2070075
NM_000155.3(GALT):c.687+9G>C rs117998880
NM_000155.3(GALT):c.688-4C>T rs374014228
NM_000155.3(GALT):c.843G>A (p.Lys281=) rs368298966
NM_000155.3(GALT):c.876G>A (p.Thr292=) rs1055607
NM_000155.3(GALT):c.904+2T>G rs886063885
NM_000155.3(GALT):c.940A>G (p.Asn314Asp) rs2070074
NM_000155.3(GALT):c.945T>C (p.His315=) rs61735982
NM_000155.3(GALT):c.957C>A (p.His319Gln) rs111033792

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