List of variants in gene GALT reported as pathogenic by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 18

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HGVS	dbSNP	gnomAD frequency
NM_000155.4(GALT):c.563A>G (p.Gln188Arg)	rs75391579	0.00192
NM_000155.4(GALT):c.404C>T (p.Ser135Leu)	rs111033690	0.00094
NM_000155.4(GALT):c.855G>T (p.Lys285Asn)	rs111033773	0.00017
NM_000155.4(GALT):c.584T>C (p.Leu195Pro)	rs111033728	0.00006
NM_000155.4(GALT):c.512T>C (p.Phe171Ser)	rs111033715	0.00004
NM_000155.4(GALT):c.1030C>A (p.Gln344Lys)	rs111033814	0.00003
NM_000155.4(GALT):c.292G>A (p.Asp98Asn)	rs111033670	0.00003
NM_000155.4(GALT):c.442C>T (p.Arg148Trp)	rs111033693	0.00003
NM_000155.4(GALT):c.602G>A (p.Arg201His)	rs111033735	0.00003
NM_000155.4(GALT):c.601C>T (p.Arg201Cys)	rs111033739	0.00001
NM_000155.2(GALT):c.-119_-116delGTCA	rs111033640
NM_000155.3(GALT):c.790_792invCTA (p.Leu264Ter)
NM_000155.4(GALT):c.400del (p.Trp134fs)	rs111033689
NM_000155.4(GALT):c.452T>C (p.Val151Ala)	rs111033701
NM_000155.4(GALT):c.524G>A (p.Gly175Asp)	rs111033718
NM_000155.4(GALT):c.748C>A (p.Pro250Thr)	rs111033759
NM_000155.4(GALT):c.761dup (p.Leu255fs)	rs747036550
NM_000155.4(GALT):c.997C>T (p.Arg333Trp)	rs111033800

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