ClinVar Miner

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

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Total variants: 37
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HGVS dbSNP gnomAD frequency
NM_000284.4(PDHA1):c.58-84C>T rs140575255 0.02586
NM_000284.4(PDHA1):c.900-265T>C rs141480332 0.01556
NM_000284.4(PDHA1):c.57+289T>C rs73453457 0.01307
NC_000023.11:g.19343829T>C rs187972638 0.01175
NM_000284.4(PDHA1):c.292-304T>A rs7055605 0.01113
NM_000284.4(PDHA1):c.510+187C>T rs139638187 0.01098
NM_000284.4(PDHA1):c.900-283G>A rs138892389 0.00911
NM_000284.4(PDHA1):c.900-163C>T rs150842150 0.00860
NM_000284.4(PDHA1):c.832-118A>G rs147808168 0.00691
NM_000284.4(PDHA1):c.57+2160G>A rs149807759 0.00422
NM_000284.4(PDHA1):c.291+74C>T rs73453465 0.00277
NM_000284.4(PDHA1):c.292-59C>T rs186854596 0.00238
NM_000284.4(PDHA1):c.511-54G>A rs181933291 0.00184
NM_000284.4(PDHA1):c.507G>A (p.Ala169=) rs141862527 0.00077
NM_000284.4(PDHA1):c.252G>A (p.Gln84=) rs144828838 0.00032
NM_000284.4(PDHA1):c.396A>C (p.Arg132=) rs757654963 0.00026
NM_000284.4(PDHA1):c.784G>A (p.Val262Ile) rs202166915 0.00018
NM_000284.4(PDHA1):c.292-5C>T rs191666624 0.00013
NM_000284.4(PDHA1):c.363C>T (p.His121=) rs183170654 0.00012
NM_000284.4(PDHA1):c.1114G>A (p.Asp372Asn) rs199879809 0.00009
NM_000284.4(PDHA1):c.1113C>T (p.Ser371=) rs773338429 0.00007
NM_000284.4(PDHA1):c.693G>A (p.Thr231=) rs138237215 0.00005
NM_000284.4(PDHA1):c.126C>G (p.Asp42Glu) rs759331650 0.00004
NM_000284.4(PDHA1):c.657T>C (p.Ile219=) rs778744930 0.00004
NM_000284.4(PDHA1):c.-23G>C rs773557576 0.00002
NM_000284.4(PDHA1):c.1008+117ATAGTTCC[4] rs761758246
NM_000284.4(PDHA1):c.1146G>A (p.Gln382=) rs767675495
NM_000284.4(PDHA1):c.1173_*5del (p.Ter391Xaa) rs762505127
NM_000284.4(PDHA1):c.489C>T (p.Gly163=) rs1555933962
NM_000284.4(PDHA1):c.57+1658C>G
NM_000284.4(PDHA1):c.57+2410dup rs754393427
NM_000284.4(PDHA1):c.604-14G>A rs377192586
NM_000284.4(PDHA1):c.759+24G>A
NM_000284.4(PDHA1):c.759+26GGCCAA[4] rs11278403
NM_000284.4(PDHA1):c.796A>G (p.Thr266Ala)
NM_000284.4(PDHA1):c.807T>C (p.Ala269=) rs2063192689
NM_000284.4(PDHA1):c.900-85_900-67dup rs369951816

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