ClinVar Miner

List of variants in gene PDHA1 reported as likely benign for carbohydrate metabolism disease

Included ClinVar conditions (161):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 63
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HGVS dbSNP
NM_000284.4(PDHA1):c.1009-31_1009-7del
NM_000284.4(PDHA1):c.1038T>C (p.Ile346=)
NM_000284.4(PDHA1):c.1099C>T (p.His367Tyr) rs1602232961
NM_000284.4(PDHA1):c.1110C>A (p.Ser370=) rs775280711
NM_000284.4(PDHA1):c.1114G>A (p.Asp372Asn) rs199879809
NM_000284.4(PDHA1):c.1146G>A (p.Gln382=)
NM_000284.4(PDHA1):c.1159A>C (p.Lys387Gln) rs201156613
NM_000284.4(PDHA1):c.117+7G>A
NM_000284.4(PDHA1):c.117+9T>G
NM_000284.4(PDHA1):c.1172_*3del (p.Ser390_Ter391insTer) rs1555935577
NM_000284.4(PDHA1):c.118-8C>A
NM_000284.4(PDHA1):c.126C>G (p.Asp42Glu)
NM_000284.4(PDHA1):c.134G>A (p.Arg45Gln)
NM_000284.4(PDHA1):c.162A>C (p.Thr54=) rs1602223801
NM_000284.4(PDHA1):c.16G>A (p.Ala6Thr) rs768396832
NM_000284.4(PDHA1):c.186C>T (p.Leu62=)
NM_000284.4(PDHA1):c.192C>T (p.Tyr64=)
NM_000284.4(PDHA1):c.21C>T (p.Ala7=)
NM_000284.4(PDHA1):c.240G>A (p.Gln80=) rs1602223831
NM_000284.4(PDHA1):c.270C>T (p.Phe90=)
NM_000284.4(PDHA1):c.292-23A>G rs1057518702
NM_000284.4(PDHA1):c.292-7A>G
NM_000284.4(PDHA1):c.292-9C>T
NM_000284.4(PDHA1):c.30C>T (p.Arg10=)
NM_000284.4(PDHA1):c.318C>T (p.Ala106=) rs764516370
NM_000284.4(PDHA1):c.330C>T (p.Pro110=)
NM_000284.4(PDHA1):c.333A>G (p.Thr111=)
NM_000284.4(PDHA1):c.345C>T (p.Ile115=)
NM_000284.4(PDHA1):c.375C>T (p.Phe125=)
NM_000284.4(PDHA1):c.396A>C (p.Arg132=) rs757654963
NM_000284.4(PDHA1):c.411G>A (p.Glu137=) rs1301075698
NM_000284.4(PDHA1):c.419-8A>G
NM_000284.4(PDHA1):c.435T>C (p.Cys145=)
NM_000284.4(PDHA1):c.511-5G>A
NM_000284.4(PDHA1):c.511-6T>C
NM_000284.4(PDHA1):c.57+6A>T rs375415868
NM_000284.4(PDHA1):c.604-8A>G
NM_000284.4(PDHA1):c.657T>C (p.Ile219=) rs778744930
NM_000284.4(PDHA1):c.660C>T (p.Phe220=)
NM_000284.4(PDHA1):c.672T>C (p.Asn224=)
NM_000284.4(PDHA1):c.693G>T (p.Thr231=)
NM_000284.4(PDHA1):c.69G>A (p.Val23=)
NM_000284.4(PDHA1):c.708G>C (p.Ala236=)
NM_000284.4(PDHA1):c.732G>A (p.Lys244=)
NM_000284.4(PDHA1):c.756G>C (p.Leu252=)
NM_000284.4(PDHA1):c.759+8C>T
NM_000284.4(PDHA1):c.759+9del rs1602227706
NM_000284.4(PDHA1):c.765T>C (p.Asp255=) rs1602227938
NM_000284.4(PDHA1):c.783C>T (p.Cys261=)
NM_000284.4(PDHA1):c.810T>G (p.Ala270=)
NM_000284.4(PDHA1):c.813C>T (p.Ala271=) rs1602228001
NM_000284.4(PDHA1):c.816T>C (p.Tyr272=)
NM_000284.4(PDHA1):c.828G>A (p.Gly276=)
NM_000284.4(PDHA1):c.867C>T (p.Tyr289=)
NM_000284.4(PDHA1):c.891T>C (p.Pro297=)
NM_000284.4(PDHA1):c.899+4C>T
NM_000284.4(PDHA1):c.899+8C>T rs766362480
NM_000284.4(PDHA1):c.899+9A>G rs751604605
NM_000284.4(PDHA1):c.900-10C>T
NM_000284.4(PDHA1):c.903C>T (p.Tyr301=)
NM_000284.4(PDHA1):c.948T>A (p.Pro316=)
NM_000284.4(PDHA1):c.978C>T (p.Asn326=)
NM_000284.4(PDHA1):c.984T>C (p.Asn328=) rs767503319

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