ClinVar Miner

List of variants in gene DLAT, PIH1D2 studied for Pyruvate dehydrogenase E2 deficiency

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Total variants: 32
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HGVS dbSNP gnomAD frequency
NM_001931.5(DLAT):c.1677+8A>G rs201994231 0.00054
NM_001931.5(DLAT):c.1815-15T>C rs192297571 0.00051
NM_001931.5(DLAT):c.1636A>G (p.Thr546Ala) rs143152014 0.00046
NM_001931.5(DLAT):c.1743C>T (p.Asn581=) rs150592352 0.00011
NM_001931.5(DLAT):c.1692G>A (p.Thr564=) rs185907405 0.00009
NM_001931.5(DLAT):c.1735A>G (p.Ile579Val) rs371341957 0.00006
NM_001931.5(DLAT):c.1542G>A (p.Ala514=) rs587652725 0.00004
NM_001931.5(DLAT):c.1547G>T (p.Ser516Ile) rs782629889 0.00004
NM_001931.5(DLAT):c.1678-7C>T rs781917992 0.00003
NM_001931.5(DLAT):c.1535G>A (p.Ser512Asn) rs113521778 0.00001
NM_001931.5(DLAT):c.1645A>G (p.Arg549Gly) rs147456178 0.00001
NM_001931.5(DLAT):c.1664C>A (p.Pro555Gln) rs1864460439 0.00001
NM_001931.5(DLAT):c.1669G>A (p.Glu557Lys) rs1864460815 0.00001
NM_001931.5(DLAT):c.1677+4G>C rs782793536 0.00001
NM_001931.5(DLAT):c.1728C>A (p.Phe576Leu) rs119103240 0.00001
NM_001931.5(DLAT):c.1515-13dup
NM_001931.5(DLAT):c.1515-7T>A
NM_001931.5(DLAT):c.1542G>C (p.Ala514=) rs587652725
NM_001931.5(DLAT):c.1567A>G (p.Thr523Ala) rs2135156193
NM_001931.5(DLAT):c.1591A>G (p.Ile531Val)
NM_001931.5(DLAT):c.1677+21_1677+24del
NM_001931.5(DLAT):c.1677+9T>C
NM_001931.5(DLAT):c.1678-8del rs781833307
NM_001931.5(DLAT):c.1695C>A (p.Ile565=)
NM_001931.5(DLAT):c.1703T>C (p.Leu568Ser) rs1566642089
NM_001931.5(DLAT):c.1712T>C (p.Phe571Ser) rs782810132
NM_001931.5(DLAT):c.1771G>T (p.Gly591Cys)
NM_001931.5(DLAT):c.1784A>G (p.Asp595Gly)
NM_001931.5(DLAT):c.1806_1808dup (p.Asn602_Glu603insAsp) rs1864595330
NM_001931.5(DLAT):c.1823T>A (p.Val608Glu)
NM_001931.5(DLAT):c.1851T>C (p.Ser617=)
NM_001931.5(DLAT):c.1867G>C (p.Val623Leu)

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