ClinVar Miner

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

Included ClinVar conditions (591):
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Gene type:
ClinVar version:
Total variants: 64
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HGVS dbSNP gnomAD frequency
NM_000183.3(HADHB):c.1A>G (p.Met1Val) rs763333945 0.00010
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.210-1G>T rs200777054 0.00002
NM_000183.3(HADHB):c.97C>T (p.Arg33Ter) rs752264795 0.00002
NM_000183.3(HADHB):c.1165A>G (p.Asn389Asp) rs1023807527 0.00001
NM_000183.3(HADHB):c.181C>T (p.Arg61Cys) rs780351691 0.00001
NM_000183.3(HADHB):c.254+1G>A rs776172237 0.00001
NM_000183.3(HADHB):c.255-1G>A rs112842641 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
NC_000002.11:g.(26477343_26486247)_(26486348_26492820)del
NC_000002.11:g.(?_26477123)_(26486367_?)del
NC_000002.11:g.(?_26486228)_(26486367_?)del
NC_000002.11:g.(?_26492801)_(26496638_?)del
NC_000002.11:g.(?_26505693)_(26508459_?)del
NC_000002.11:g.(?_26506965)_(26508459_?)del
NC_000002.11:g.(?_26507731)_(26508459_?)del
NC_000002.11:g.(?_26507731)_(26512821_?)del
NM_000183.3(HADHB):c.1059del (p.Gly354fs) rs796051974
NM_000183.3(HADHB):c.1112del (p.Asn371fs)
NM_000183.3(HADHB):c.1137del (p.His379fs)
NM_000183.3(HADHB):c.1175C>T (p.Ala392Val) rs764623179
NM_000183.3(HADHB):c.1206C>G (p.Tyr402Ter) rs146538551
NM_000183.3(HADHB):c.1211dup (p.Gly404_Arg405insTer) rs1553323072
NM_000183.3(HADHB):c.1279G>T (p.Gly427Ter)
NM_000183.3(HADHB):c.1331G>A (p.Arg444Lys) rs121913134
NM_000183.3(HADHB):c.1364T>G (p.Val455Gly) rs267606859
NM_000183.3(HADHB):c.1389+5G>A
NM_000183.3(HADHB):c.1390-515_1390-499del
NM_000183.3(HADHB):c.198_205dup (p.Thr69fs)
NM_000183.3(HADHB):c.209+1G>C
NM_000183.3(HADHB):c.209C>G (p.Ser70Ter)
NM_000183.3(HADHB):c.340A>G (p.Asn114Asp)
NM_000183.3(HADHB):c.357dup (p.Ala120fs) rs886037844
NM_000183.3(HADHB):c.410dup (p.Cys138fs)
NM_000183.3(HADHB):c.417del (p.Ser140fs)
NM_000183.3(HADHB):c.442+663A>G
NM_000183.3(HADHB):c.458del (p.Ala153fs)
NM_000183.3(HADHB):c.50G>A (p.Trp17Ter)
NM_000183.3(HADHB):c.568A>T (p.Lys190Ter)
NM_000183.3(HADHB):c.590_591delinsAA (p.Ser197Ter)
NM_000183.3(HADHB):c.607C>T (p.Arg203Ter)
NM_000183.3(HADHB):c.615_616insCTCTAAT (p.Phe206delinsLeuTer)
NM_000183.3(HADHB):c.630+2_630+6del
NM_000183.3(HADHB):c.631-1G>A rs1553322031
NM_000183.3(HADHB):c.637_638delinsTA (p.Ala213Ter)
NM_000183.3(HADHB):c.646G>T (p.Glu216Ter) rs2147825407
NM_000183.3(HADHB):c.685C>T (p.Arg229Ter) rs759136382
NM_000183.3(HADHB):c.693del (p.Ala232fs) rs2147825515
NM_000183.3(HADHB):c.739C>T (p.Arg247Cys)
NM_000183.3(HADHB):c.747_748del (p.His249fs)
NM_000183.3(HADHB):c.776_777insT (p.Leu260fs)
NM_000183.3(HADHB):c.788A>G (p.Asp263Gly) rs121913131
NM_000183.3(HADHB):c.811+82A>G
NM_000183.3(HADHB):c.812-2A>G
NM_000183.3(HADHB):c.881C>G (p.Pro294Arg) rs1558357879
NM_000183.3(HADHB):c.882dup (p.Ala295fs)
NM_000183.3(HADHB):c.962del (p.Met321fs)
NM_000183.3(HADHB):c.989del (p.Gly330fs) rs2147829909

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