ClinVar Miner

List of variants in gene PDHA1 reported as likely pathogenic for not provided

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Total variants: 21
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HGVS dbSNP gnomAD frequency
NM_000284.4(PDHA1):c.1025T>G (p.Val342Gly) rs1057523018
NM_000284.4(PDHA1):c.1046C>T (p.Ala349Val) rs1131691952
NM_000284.4(PDHA1):c.1066_1074dup (p.Asp356_Glu358dup) rs2147189158
NM_000284.4(PDHA1):c.1072G>A (p.Glu358Lys) rs2147189180
NM_000284.4(PDHA1):c.1100A>C (p.His367Pro) rs1131691584
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.311T>C (p.Leu104Pro) rs794727621
NM_000284.4(PDHA1):c.364G>A (p.Gly122Ser) rs1555933643
NM_000284.4(PDHA1):c.409G>A (p.Glu137Lys) rs1555933663
NM_000284.4(PDHA1):c.491A>G (p.Asn164Ser) rs1555933963
NM_000284.4(PDHA1):c.624dup (p.Asn209fs) rs2063188850
NM_000284.4(PDHA1):c.640T>C (p.Trp214Arg) rs886042089
NM_000284.4(PDHA1):c.642G>A (p.Trp214Ter) rs1569191659
NM_000284.4(PDHA1):c.707C>A (p.Ala236Glu) rs863224145
NM_000284.4(PDHA1):c.738C>T (p.Gly246=) rs1555934379
NM_000284.4(PDHA1):c.746T>G (p.Ile249Ser) rs1064793225
NM_000284.4(PDHA1):c.754C>G (p.Leu252Val) rs1555934383
NM_000284.4(PDHA1):c.832G>A (p.Gly278Arg) rs1057521993
NM_000284.4(PDHA1):c.934_940dup (p.Ser314delinsLysTer) rs606231185
NM_000284.4(PDHA1):c.943G>A (p.Asp315Asn) rs137853256

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