List of variants in gene HADHB reported as likely pathogenic for hereditary skeletal muscle disorder

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 70

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HGVS	dbSNP	gnomAD frequency
NM_000183.3(HADHB):c.397A>G (p.Thr133Ala)	rs371159065	0.00006
NM_000183.3(HADHB):c.712C>T (p.Arg238Trp)	rs764006338	0.00006
NM_000183.3(HADHB):c.182G>A (p.Arg61His)	rs121913132	0.00005
NM_000183.3(HADHB):c.1289T>C (p.Phe430Ser)	rs375329638	0.00004
NM_000183.3(HADHB):c.1148C>T (p.Ser383Leu)	rs144711755	0.00001
NM_000183.3(HADHB):c.1165A>G (p.Asn389Asp)	rs1023807527	0.00001
NM_000183.3(HADHB):c.1390-2A>G	rs1297095534	0.00001
NM_000183.3(HADHB):c.181C>T (p.Arg61Cys)	rs780351691	0.00001
NM_000183.3(HADHB):c.209+1G>A	rs113112630	0.00001
NM_000183.3(HADHB):c.254+1G>A	rs776172237	0.00001
NM_000183.3(HADHB):c.255-2A>G	rs1220650950	0.00001
NM_000183.3(HADHB):c.583C>T (p.Arg195Ter)	rs552292698	0.00001
NM_000183.3(HADHB):c.693_696dup (p.Ala233fs)	rs745646607	0.00001
NM_000183.3(HADHB):c.740G>A (p.Arg247His)	rs121913133	0.00001
NM_000183.3(HADHB):c.901G>A (p.Gly301Ser)	rs891954464	0.00001
NM_000183.3(HADHB):c.998C>T (p.Pro333Leu)	rs770736746	0.00001
NC_000002.11:g.(26467859_26477114)_(26477343_26486247)del
NM_000183.3(HADHB):c.1013+2T>G
NM_000183.3(HADHB):c.1014-2A>G
NM_000183.3(HADHB):c.1014-2A>T
NM_000183.3(HADHB):c.1062-1G>T
NM_000183.3(HADHB):c.1063C>A (p.Pro355Thr)	rs1370999216
NM_000183.3(HADHB):c.110-1G>A
NM_000183.3(HADHB):c.110-2A>T
NM_000183.3(HADHB):c.1100del (p.Gly367fs)
NM_000183.3(HADHB):c.1112del (p.Asn371fs)
NM_000183.3(HADHB):c.1149+1G>T
NM_000183.3(HADHB):c.1149+2T>C
NM_000183.3(HADHB):c.1150-1G>C
NM_000183.3(HADHB):c.1150-1G>T
NM_000183.3(HADHB):c.1150-2A>G	rs2147832276
NM_000183.3(HADHB):c.1174_1176del (p.Ala392del)
NM_000183.3(HADHB):c.1224+1G>A
NM_000183.3(HADHB):c.1225-1G>A
NM_000183.3(HADHB):c.1259G>A (p.Trp420Ter)
NM_000183.3(HADHB):c.1334T>G (p.Leu445Ter)
NM_000183.3(HADHB):c.1375G>A (p.Ala459Thr)	rs1376342675
NM_000183.3(HADHB):c.1389+1G>A
NM_000183.3(HADHB):c.1389+5G>A
NM_000183.3(HADHB):c.184A>G (p.Thr62Ala)
NM_000183.3(HADHB):c.198_205dup (p.Thr69fs)
NM_000183.3(HADHB):c.255-2del
NM_000183.3(HADHB):c.340A>G (p.Asn114Asp)
NM_000183.3(HADHB):c.341A>G (p.Asn114Ser)
NM_000183.3(HADHB):c.343dup (p.Val115fs)
NM_000183.3(HADHB):c.354+1G>T
NM_000183.3(HADHB):c.354+2T>C
NM_000183.3(HADHB):c.389C>T (p.Pro130Leu)
NM_000183.3(HADHB):c.392C>T (p.Ala131Val)	rs1672558537
NM_000183.3(HADHB):c.407T>C (p.Met136Thr)	rs750956714
NM_000183.3(HADHB):c.427C>G (p.Gln143Glu)	rs200718690
NM_000183.3(HADHB):c.466C>T (p.Gln156Ter)
NM_000183.3(HADHB):c.490G>A (p.Gly164Ser)
NM_000183.3(HADHB):c.520C>T (p.Arg174Cys)
NM_000183.3(HADHB):c.527C>G (p.Ser176Ter)	rs951478194
NM_000183.3(HADHB):c.607C>T (p.Arg203Ter)
NM_000183.3(HADHB):c.630+2T>C
NM_000183.3(HADHB):c.631-1G>A	rs1553322031
NM_000183.3(HADHB):c.631-2A>C	rs1574663316
NM_000183.3(HADHB):c.65-1G>C
NM_000183.3(HADHB):c.686G>A (p.Arg229Gln)	rs375654005
NM_000183.3(HADHB):c.725A>G (p.Asp242Gly)
NM_000183.3(HADHB):c.811+1G>A
NM_000183.3(HADHB):c.811+2T>G
NM_000183.3(HADHB):c.811+82A>G
NM_000183.3(HADHB):c.820dup (p.Thr274fs)
NM_000183.3(HADHB):c.881C>G (p.Pro294Arg)	rs1558357879
NM_000183.3(HADHB):c.901G>C (p.Gly301Arg)	rs891954464
NM_000183.3(HADHB):c.933+1G>T
NM_000183.3(HADHB):c.962del (p.Met321fs)

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