ClinVar Miner

List of variants in gene GALT reported by CeGaT Center for Human Genetics Tuebingen

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Gene type:
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Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_000155.4(GALT):c.940A>G (p.Asn314Asp) rs2070074 0.07150
NM_000155.4(GALT):c.510C>A (p.Ile170=) rs61735984 0.00290
NM_000155.4(GALT):c.563A>G (p.Gln188Arg) rs75391579 0.00192
NM_000155.4(GALT):c.498T>C (p.Pro166=) rs193922249 0.00029
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.663C>T (p.Tyr221=) rs755000603 0.00001
NM_000155.4(GALT):c.974C>T (p.Pro325Leu) rs111033794 0.00001
NM_000155.2(GALT):c.-119_-116delGTCA rs111033640
NM_000155.4(GALT):c.957C>A (p.His319Gln) rs111033792

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