ClinVar Miner

List of variants in gene HADHB reported as benign for 3-hydroxyacyl-CoA dehydrogenase deficiency

Included ClinVar conditions (7):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 18
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HGVS dbSNP
NM_000183.3(HADHB):c.*136G>C rs1056471
NM_000183.3(HADHB):c.*196A>G rs7586822
NM_000183.3(HADHB):c.*351C>G rs7575987
NM_000183.3(HADHB):c.*486G>A rs7601689
NM_000183.3(HADHB):c.*52A>G rs183649494
NM_000183.3(HADHB):c.1014-14A>G rs17528590
NM_000183.3(HADHB):c.1149+4A>T rs2303893
NM_000183.3(HADHB):c.135G>A (p.Thr45=) rs574464531
NM_000183.3(HADHB):c.1371G>A (p.Ala457=) rs72851542
NM_000183.3(HADHB):c.246A>G (p.Ala82=) rs151302743
NM_000183.3(HADHB):c.5_7dup (p.Thr2dup) rs3839049
NM_000183.3(HADHB):c.780C>T (p.Leu260=) rs7607527
NM_000183.3(HADHB):c.812-5A>T rs72851534
NM_000183.3(HADHB):c.825T>C (p.Val275=) rs1056389
NM_000183.3(HADHB):c.830A>G (p.Lys277Arg) rs57969630
NM_000183.3(HADHB):c.891C>T (p.Ile297=) rs56902571
NM_000183.3(HADHB):c.900C>T (p.Tyr300=) rs144093705
NM_000183.3(HADHB):c.966G>A (p.Ala322=) rs7572240

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