ClinVar Miner

List of variants in gene HADH reported by GeneDx

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 42
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_005327.7(HADH):c.710-240T>C rs4552543 0.99729
NM_005327.7(HADH):c.827-275G>T rs4533834 0.97770
NM_005327.7(HADH):c.133-304A>G rs6810610 0.87101
NM_005327.7(HADH):c.547-51C>T rs4956032 0.86602
NM_005327.7(HADH):c.636+127A>G rs4956034 0.86592
NM_005327.7(HADH):c.419+226C>G rs4956149 0.86590
NM_005327.7(HADH):c.636+102C>T rs4956033 0.86587
NM_005327.7(HADH):c.419+127G>A rs4956147 0.86171
NM_005327.7(HADH):c.636+351C>A rs732940 0.86117
NM_005327.7(HADH):c.419+26T>C rs7677408 0.85735
NM_005327.7(HADH):c.827-245C>T rs4422481 0.75534
NM_005327.7(HADH):c.636+385A>G rs732941 0.75378
NM_005327.7(HADH):c.-38T>C rs17550794 0.13430
NM_005327.7(HADH):c.*109T>A rs221347 0.07950
NM_005327.7(HADH):c.636+13G>A rs17511214 0.04139
NM_005327.7(HADH):c.419+21C>A rs17585652 0.02121
NM_005327.7(HADH):c.710-656T>A rs28569296 0.01980
NM_005327.7(HADH):c.261+135C>T rs148199172 0.01665
NM_005327.7(HADH):c.881A>G (p.Asn294Ser) rs36030668 0.00738
NM_005327.7(HADH):c.419+57T>A rs112515191 0.00522
NM_005327.7(HADH):c.275T>G (p.Phe92Cys) rs61735992 0.00516
NM_005327.7(HADH):c.261+161A>G rs141131432 0.00510
NM_005327.7(HADH):c.132+89A>G rs564000933 0.00492
NM_005327.7(HADH):c.636+315A>G rs139468507 0.00376
NM_005327.7(HADH):c.662G>A (p.Arg221His) rs76476980 0.00358
NM_005327.7(HADH):c.710-262G>A rs28363961 0.00284
NM_005327.7(HADH):c.643C>A (p.Pro215Thr) rs140413151 0.00198
NM_005327.7(HADH):c.456G>T (p.Gln152His) rs1051519 0.00188
NM_005327.7(HADH):c.133-15C>T rs190144364 0.00013
NM_005327.7(HADH):c.144A>C (p.Ala48=) rs79881095 0.00011
NM_005327.7(HADH):c.908G>T (p.Gly303Val) rs575378007 0.00005
NM_005327.7(HADH):c.706C>T (p.Arg236Ter) rs375717077 0.00003
NM_005327.7(HADH):c.261+107dup rs11388783
NM_005327.7(HADH):c.262-34G>A rs17038398
NM_005327.7(HADH):c.268G>A (p.Asp90Asn)
NM_005327.7(HADH):c.323C>T (p.Ser108Phe)
NM_005327.7(HADH):c.32C>G (p.Ser11Cys)
NM_005327.7(HADH):c.374_375insTTCA (p.Lys125fs) rs766656997
NM_005327.7(HADH):c.643C>T (p.Pro215Ser) rs140413151
NM_005327.7(HADH):c.710-1045_710-1041del rs61327377
NM_005327.7(HADH):c.710-319C>G rs13116685
NM_005327.7(HADH):c.715G>T (p.Ala239Ser) rs746680125

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.