ClinVar Miner

List of variants reported as likely benign for Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase by Invitae

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Total variants: 17
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NM_000155.4(GALT):c.1077G>A (p.Arg359=) rs148967210
NM_000155.4(GALT):c.1116C>T (p.Asp372=) rs757314660
NM_000155.4(GALT):c.1128A>T (p.Ala376=) rs781374930
NM_000155.4(GALT):c.1135G>A (p.Ala379Thr) rs780064274
NM_000155.4(GALT):c.267C>T (p.Tyr89=) rs145628307
NM_000155.4(GALT):c.291C>T (p.Asn97=) rs398123180
NM_000155.4(GALT):c.328+7T>C rs774350978
NM_000155.4(GALT):c.378-9A>G rs371470838
NM_000155.4(GALT):c.414G>A (p.Thr138=) rs116479817
NM_000155.4(GALT):c.459A>G (p.Ala153=) rs141498518
NM_000155.4(GALT):c.480G>A (p.Glu160=) rs1587238612
NM_000155.4(GALT):c.498T>C (p.Pro166=) rs193922249
NM_000155.4(GALT):c.687+9G>C rs117998880
NM_000155.4(GALT):c.688-4C>T rs374014228
NM_000155.4(GALT):c.700C>T (p.Leu234=) rs751351126
NM_000155.4(GALT):c.82+8C>T rs368244179
NM_000155.4(GALT):c.919T>A (p.Ser307Thr) rs61735983

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