ClinVar Miner

List of variants studied for Pyruvate dehydrogenase E1-alpha deficiency by OMIM

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Total variants: 22
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HGVS dbSNP
NM_000284.4(PDHA1):c.*79_*90dup rs1555935690
NM_000284.4(PDHA1):c.1073_1092del (p.Glu358fs) rs606231187
NM_000284.4(PDHA1):c.1074_1109dup (p.Pro359_Ser370dup) rs606231191
NM_000284.4(PDHA1):c.1133G>A (p.Arg378His) rs137853250
NM_000284.4(PDHA1):c.1142_1145dup (p.Trp383fs) rs606231189
NM_000284.4(PDHA1):c.1159_1160del (p.Lys387fs) rs606231186
NM_000284.4(PDHA1):c.1163_1166CAGT[1] (p.Ser390fs) rs606231184
NM_000284.4(PDHA1):c.29G>C (p.Arg10Pro) rs137853257
NM_000284.4(PDHA1):c.615C>G (p.Phe205Leu) rs137853254
NM_000284.4(PDHA1):c.648A>C (p.Leu216Phe) rs121917898
NM_000284.4(PDHA1):c.727T>A (p.Tyr243Asn) rs137853255
NM_000284.4(PDHA1):c.773A>C (p.Asp258Ala) rs137853253
NM_000284.4(PDHA1):c.787C>G (p.Arg263Gly) rs137853259
NM_000284.4(PDHA1):c.844A>C (p.Met282Leu) rs2229137
NM_000284.4(PDHA1):c.861_862insT (p.Arg288fs) rs606231190
NM_000284.4(PDHA1):c.863G>A (p.Arg288His) rs137853258
NM_000284.4(PDHA1):c.900-3_917dup rs606231188
NM_000284.4(PDHA1):c.904C>T (p.Arg302Cys) rs137853252
NM_000284.4(PDHA1):c.927_933AGTAAGA[1] (p.Ser312fs) rs606231185
NM_000284.4(PDHA1):c.938_940del (p.Lys313del) rs137853251
NM_000284.4(PDHA1):c.943G>A (p.Asp315Asn) rs137853256
PDHA1, 13-BP INS, EX10

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