ClinVar Miner

List of variants in gene GALT reported as likely pathogenic for not provided

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Total variants: 23
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HGVS dbSNP
NM_000155.4(GALT):c.1014C>G (p.Gly338=) rs111033811
NM_000155.4(GALT):c.1030C>A (p.Gln344Lys) rs111033814
NM_000155.4(GALT):c.1139G>C (p.Ter380Ser) rs749047676
NM_000155.4(GALT):c.157T>A (p.Trp53Arg) rs1131691837
NM_000155.4(GALT):c.203A>C (p.His68Pro) rs193922247
NM_000155.4(GALT):c.289A>G (p.Asn97Asp) rs1564100957
NM_000155.4(GALT):c.289_291del (p.Asn97del) rs398123179
NM_000155.4(GALT):c.291C>G (p.Asn97Lys)
NM_000155.4(GALT):c.299C>G (p.Pro100Arg) rs1057524572
NM_000155.4(GALT):c.329G>A (p.Gly110Glu) rs1057523885
NM_000155.4(GALT):c.396C>A (p.His132Gln) rs367543256
NM_000155.4(GALT):c.552C>A (p.His184Gln) rs111033717
NM_000155.4(GALT):c.558C>A (p.His186Gln) rs886042097
NM_000155.4(GALT):c.568T>C (p.Trp190Arg) rs398123184
NM_000155.4(GALT):c.572C>T (p.Ala191Val) rs794727838
NM_000155.4(GALT):c.593T>C (p.Ile198Thr) rs1483461355
NM_000155.4(GALT):c.752_753delinsCT (p.Tyr251Ser) rs886043390
NM_000155.4(GALT):c.772C>T (p.Arg258Cys) rs368166217
NM_000155.4(GALT):c.776G>A (p.Arg259Gln) rs886042070
NM_000155.4(GALT):c.844C>G (p.Leu282Val) rs111033772
NM_000155.4(GALT):c.893T>C (p.Met298Thr) rs886042064
NM_000155.4(GALT):c.982C>T (p.Arg328Cys) rs144993986
NM_000155.4(GALT):c.985T>C (p.Ser329Pro) rs398123188

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