ClinVar Miner

List of variants in gene PDHA1 studied for not specified

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Total variants: 38
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HGVS dbSNP gnomAD frequency
NM_000284.4(PDHA1):c.795A>G (p.Ala265=) rs1126565 0.28594
NM_000284.4(PDHA1):c.760-15C>A rs7058209 0.22904
NM_000284.4(PDHA1):c.1009-23T>C rs5955760 0.22827
NM_000284.4(PDHA1):c.604-15C>T rs13440874 0.03269
NM_000284.4(PDHA1):c.57+2482G>A rs145749914 0.02089
NM_000284.4(PDHA1):c.844A>C (p.Met282Leu) rs2229137 0.00715
NM_000284.4(PDHA1):c.831+15C>T rs190157093 0.00379
NM_000284.4(PDHA1):c.510+12C>T rs201869402 0.00312
NM_000284.4(PDHA1):c.999A>C (p.Glu333Asp) rs2228067 0.00124
NM_000284.4(PDHA1):c.97G>C (p.Asp33His) rs150318528 0.00061
NM_000284.4(PDHA1):c.604-10C>T rs201754585 0.00058
NM_000284.4(PDHA1):c.899+12G>A rs376730441 0.00036
NM_000284.4(PDHA1):c.117+19T>A rs373859720 0.00026
NM_000284.4(PDHA1):c.396A>C (p.Arg132=) rs757654963 0.00026
NM_000284.4(PDHA1):c.899+18G>A rs370785632 0.00022
NM_000284.4(PDHA1):c.984T>C (p.Asn328=) rs767503319 0.00010
NM_000284.4(PDHA1):c.118-17A>G rs749601456 0.00009
NM_000284.4(PDHA1):c.693G>A (p.Thr231=) rs138237215 0.00005
NM_000284.4(PDHA1):c.292-27T>G rs1389638523 0.00001
NM_000284.4(PDHA1):c.900-10C>A rs370163447 0.00001
NM_000284.4(PDHA1):c.900-17C>T rs1196796985 0.00001
NM_000284.4(PDHA1):c.900-2dup rs779132922 0.00001
NM_000284.4(PDHA1):c.*10_*12del rs752082232
NM_000284.4(PDHA1):c.1009-22_1057dup rs1569193991
NM_000284.4(PDHA1):c.1018G>A (p.Val340Met) rs1569194022
NM_000284.4(PDHA1):c.1152_1171del (p.Lys385fs)
NM_000284.4(PDHA1):c.1170_1171dup (p.Ter391PheextTer?)
NM_000284.4(PDHA1):c.1172_*3del (p.Ser390_Ter391insTer) rs1555935577
NM_000284.4(PDHA1):c.1173_*5del (p.Ter391Xaa) rs762505127
NM_000284.4(PDHA1):c.147C>T (p.Gly49=) rs1555933449
NM_000284.4(PDHA1):c.328C>G (p.Pro110Ala)
NM_000284.4(PDHA1):c.456G>A (p.Ser152=) rs1358837850
NM_000284.4(PDHA1):c.510+18T>C
NM_000284.4(PDHA1):c.510+19dup
NM_000284.4(PDHA1):c.604-14G>A rs377192586
NM_000284.4(PDHA1):c.692C>T (p.Thr231Met)
NM_000284.4(PDHA1):c.759+26GGCCAA[4] rs11278403
NM_000284.4(PDHA1):c.861C>T (p.Tyr287=) rs1057521179

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