ClinVar Miner

List of variants in gene DLAT, PIH1D2 studied for X-linked syndromic intellectual disability

Included ClinVar conditions (165):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 20
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HGVS dbSNP
NM_001082619.1(PIH1D2):c.*38C>T rs184244244
NM_001082619.1(PIH1D2):c.814-18T>C rs886047698
NM_001931.4(DLAT):c.*1109C>T rs75608010
NM_001931.4(DLAT):c.*1232_*1235dupAGGA rs368743837
NM_001931.4(DLAT):c.*1248G>C rs9822
NM_001931.4(DLAT):c.*1318A>G rs757760280
NM_001931.4(DLAT):c.*1375T>C rs144371275
NM_001931.4(DLAT):c.*168G>A rs77304693
NM_001931.4(DLAT):c.*220T>C rs886047695
NM_001931.4(DLAT):c.*243T>C rs189254124
NM_001931.4(DLAT):c.*246A>G rs886047696
NM_001931.4(DLAT):c.*419A>G rs9371
NM_001931.4(DLAT):c.*622C>A rs139429714
NM_001931.4(DLAT):c.*873T>C rs73568056
NM_001931.4(DLAT):c.*920A>G rs116895022
NM_001931.4(DLAT):c.*96C>A rs534753
NM_001931.4(DLAT):c.*981G>A rs886047697
NM_001931.4(DLAT):c.1692G>A (p.Thr564=) rs185907405
NM_001931.4(DLAT):c.1728C>A (p.Phe576Leu) rs119103240
NM_001931.4(DLAT):c.1735A>G (p.Ile579Val) rs371341957

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