ClinVar Miner

List of variants in gene DLAT studied for X-linked syndromic intellectual disability

Included ClinVar conditions (165):
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Total variants: 47
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HGVS dbSNP
DLAT, 3-BP DEL, 361GAA
NM_001931.4(DLAT):c.-137G>A rs886047692
NM_001931.4(DLAT):c.-156C>G rs115067052
NM_001931.4(DLAT):c.-157G>A rs587688778
NM_001931.4(DLAT):c.-203C>T rs781987834
NM_001931.4(DLAT):c.-212C>G rs587656558
NM_001931.4(DLAT):c.-222C>T rs587750751
NM_001931.4(DLAT):c.-338T>C rs587698124
NM_001931.4(DLAT):c.-383T>A rs886047691
NM_001931.4(DLAT):c.-471C>T rs886047690
NM_001931.4(DLAT):c.-500C>T rs886047689
NM_001931.4(DLAT):c.-572G>A rs183456915
NM_001931.4(DLAT):c.-590G>A rs587721916
NM_001931.4(DLAT):c.-598C>T rs78298568
NM_001931.4(DLAT):c.-637G>A rs114863504
NM_001931.4(DLAT):c.-647C>A rs190887558
NM_001931.4(DLAT):c.-90G>C rs587665696
NM_001931.4(DLAT):c.1142A>G (p.Asp381Gly) rs144235197
NM_001931.4(DLAT):c.1202C>T (p.Pro401Leu) rs781794850
NM_001931.4(DLAT):c.128C>T (p.Ala43Val) rs2303436
NM_001931.4(DLAT):c.1290+5G>A rs886047694
NM_001931.4(DLAT):c.1351G>A (p.Asp451Asn) rs10891314
NM_001931.4(DLAT):c.1399-13C>T rs374698306
NM_001931.4(DLAT):c.144G>A (p.Val48=) rs367745211
NM_001931.4(DLAT):c.210G>C (p.Arg70=) rs782739576
NM_001931.4(DLAT):c.318C>A (p.Gly106=) rs201070254
NM_001931.4(DLAT):c.355A>G (p.Ile119Val) rs1555179245
NM_001931.4(DLAT):c.381+22delT rs5794771
NM_001931.4(DLAT):c.396dup (p.Ala133Serfs) rs782173047
NM_001931.4(DLAT):c.402T>C (p.Thr134=) rs886047693
NM_001931.4(DLAT):c.412G>T (p.Glu138Ter) rs781991355
NM_001931.4(DLAT):c.46G>A (p.Ala16Thr) rs150145390
NM_001931.4(DLAT):c.470T>G (p.Val157Gly) rs797044957
NM_001931.4(DLAT):c.506+11C>T rs77846695
NM_001931.4(DLAT):c.506+12G>A rs372355218
NM_001931.4(DLAT):c.55G>C (p.Glu19Gln) rs61757217
NM_001931.4(DLAT):c.570A>G (p.Gln190=) rs143107853
NM_001931.4(DLAT):c.572C>T (p.Ala191Val) rs200500508
NM_001931.4(DLAT):c.606G>A (p.Ser202=) rs148153443
NM_001931.4(DLAT):c.626A>G (p.Gln209Arg) rs11553595
NM_001931.4(DLAT):c.693C>T (p.Thr231=) rs34680691
NM_001931.4(DLAT):c.828G>T (p.Leu276=) rs199835215
NM_001931.4(DLAT):c.848_849del (p.Asp283Glyfs) rs782704553
NM_001931.4(DLAT):c.946C>T (p.Pro316Ser) rs149088081
NM_001931.4(DLAT):c.953T>C (p.Val318Ala) rs627441
NM_001931.4(DLAT):c.974C>T (p.Pro325Leu) rs782527135
NM_001931.4(DLAT):c.991C>G (p.Pro331Ala) rs78320677

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