List of variants in gene HADHB reported as uncertain significance 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: 137

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HGVS	dbSNP	gnomAD frequency
NM_000183.3(HADHB):c.1206C>T (p.Tyr402=)	rs146538551	0.00086
NM_000183.3(HADHB):c.900C>T (p.Tyr300=)	rs144093705	0.00065
NM_000183.3(HADHB):c.560A>G (p.Asn187Ser)	rs138696018	0.00036
NM_000183.3(HADHB):c.1023G>T (p.Met341Ile)	rs141484936	0.00031
NM_000183.3(HADHB):c.565G>A (p.Ala189Thr)	rs143683481	0.00031
NM_000183.3(HADHB):c.*43C>T	rs192988436	0.00028
NM_000183.3(HADHB):c.640G>A (p.Val214Ile)	rs149693931	0.00028
NM_000183.3(HADHB):c.272C>T (p.Thr91Ile)	rs145712438	0.00008
NM_000183.3(HADHB):c.514C>T (p.Pro172Ser)	rs367891116	0.00008
NM_000183.3(HADHB):c.584G>A (p.Arg195Gln)	rs764507324	0.00007
NM_000183.2(HADHB):c.-176G>T	rs574318006	0.00006
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.845G>A (p.Arg282His)	rs140355426	0.00006
NM_000183.3(HADHB):c.1000A>C (p.Lys334Gln)	rs774054520	0.00005
NM_000183.3(HADHB):c.1115A>T (p.Asp372Val)	rs374840025	0.00004
NM_000183.3(HADHB):c.266A>G (p.His89Arg)	rs373356931	0.00004
NM_000183.3(HADHB):c.64+15A>T	rs1018820638	0.00004
NM_000183.3(HADHB):c.1417C>A (p.Pro473Thr)	rs942477332	0.00003
NM_000183.3(HADHB):c.134C>T (p.Thr45Met)	rs754537494	0.00002
NM_000183.3(HADHB):c.353A>T (p.Glu118Val)	rs761005966	0.00002
NM_000183.3(HADHB):c.362T>C (p.Leu121Pro)	rs773127211	0.00002
NM_000183.3(HADHB):c.574A>G (p.Met192Val)	rs772405727	0.00002
NM_000183.3(HADHB):c.589T>C (p.Ser197Pro)	rs142475516	0.00002
NM_000183.3(HADHB):c.713G>A (p.Arg238Gln)	rs369313023	0.00002
NM_000183.3(HADHB):c.844C>T (p.Arg282Cys)	rs374979465	0.00002
NM_000183.3(HADHB):c.965C>T (p.Ala322Val)	rs758786432	0.00002
NM_000183.2(HADHB):c.-202G>A	rs886055865	0.00001
NM_000183.2(HADHB):c.-235delT	rs886055864	0.00001
NM_000183.3(HADHB):c.-53C>T	rs1187378058	0.00001
NM_000183.3(HADHB):c.1148C>T (p.Ser383Leu)	rs144711755	0.00001
NM_000183.3(HADHB):c.1315A>G (p.Met439Val)	rs1392529342	0.00001
NM_000183.3(HADHB):c.1336C>T (p.Arg446Trp)	rs781574694	0.00001
NM_000183.3(HADHB):c.1343A>G (p.Glu448Gly)	rs971767907	0.00001
NM_000183.3(HADHB):c.1390-2A>G	rs1297095534	0.00001
NM_000183.3(HADHB):c.173A>G (p.Asp58Gly)	rs746076418	0.00001
NM_000183.3(HADHB):c.181C>T (p.Arg61Cys)	rs780351691	0.00001
NM_000183.3(HADHB):c.230A>G (p.His77Arg)	rs760290863	0.00001
NM_000183.3(HADHB):c.255-1G>A	rs112842641	0.00001
NM_000183.3(HADHB):c.443-10T>C	rs371257973	0.00001
NM_000183.3(HADHB):c.493G>A (p.Val165Ile)	rs766573917	0.00001
NM_000183.3(HADHB):c.503T>A (p.Met168Lys)	rs1672656422	0.00001
NM_000183.3(HADHB):c.608G>A (p.Arg203Gln)	rs749861331	0.00001
NM_000183.3(HADHB):c.635C>T (p.Pro212Leu)	rs758393205	0.00001
NM_000183.3(HADHB):c.74C>T (p.Pro25Leu)	rs1434038212	0.00001
NM_000183.3(HADHB):c.809C>T (p.Pro270Leu)	rs767202789	0.00001
NM_000183.3(HADHB):c.872A>G (p.Lys291Arg)	rs573709691	0.00001
NM_000183.3(HADHB):c.901G>A (p.Gly301Ser)	rs891954464	0.00001
NM_000183.3(HADHB):c.919A>G (p.Asn307Asp)	rs769558977	0.00001
NM_000183.3(HADHB):c.98G>A (p.Arg33Gln)	rs372980146	0.00001
NM_000183.3(HADHB):c.998C>T (p.Pro333Leu)	rs770736746	0.00001
NC_000002.11:g.(?_26512766)_(26512821_?)del
NM_000183.3(HADHB):c.*241T>G	rs886055867
NM_000183.3(HADHB):c.*244T>G	rs886055868
NM_000183.3(HADHB):c.*268G>A	rs886055869
NM_000183.3(HADHB):c.*380A>G	rs886055870
NM_000183.3(HADHB):c.-9+11G>C	rs886055866
NM_000183.3(HADHB):c.1044A>C (p.Lys348Asn)	rs1038882025
NM_000183.3(HADHB):c.1048C>A (p.Gln350Lys)
NM_000183.3(HADHB):c.1061+3A>G
NM_000183.3(HADHB):c.1064C>T (p.Pro355Leu)	rs2147831289
NM_000183.3(HADHB):c.106C>T (p.Pro36Ser)
NM_000183.3(HADHB):c.109+4C>T	rs769724590
NM_000183.3(HADHB):c.109+5A>G
NM_000183.3(HADHB):c.109G>C (p.Ala37Pro)
NM_000183.3(HADHB):c.1110G>C (p.Met370Ile)
NM_000183.3(HADHB):c.1123G>A (p.Ala375Thr)	rs1558360702
NM_000183.3(HADHB):c.1128T>G (p.Phe376Leu)	rs2147831395
NM_000183.3(HADHB):c.112G>T (p.Val38Phe)
NM_000183.3(HADHB):c.1142C>T (p.Ala381Val)	rs774703599
NM_000183.3(HADHB):c.1149+4A>G	rs2303893
NM_000183.3(HADHB):c.1180G>T (p.Asp394Tyr)
NM_000183.3(HADHB):c.1186G>T (p.Asp396Tyr)	rs2147832336
NM_000183.3(HADHB):c.1189T>C (p.Trp397Arg)
NM_000183.3(HADHB):c.1203C>A (p.Asn401Lys)
NM_000183.3(HADHB):c.1252A>G (p.Asn418Asp)
NM_000183.3(HADHB):c.1279G>A (p.Gly427Arg)
NM_000183.3(HADHB):c.1319C>G (p.Ala440Gly)
NM_000183.3(HADHB):c.1321G>A (p.Ala441Thr)
NM_000183.3(HADHB):c.1357G>A (p.Gly453Ser)
NM_000183.3(HADHB):c.1369G>A (p.Ala457Thr)
NM_000183.3(HADHB):c.1387C>G (p.Gln463Glu)
NM_000183.3(HADHB):c.1390-515_1390-499del
NM_000183.3(HADHB):c.1397C>T (p.Ala466Val)
NM_000183.3(HADHB):c.1399A>C (p.Met467Leu)
NM_000183.3(HADHB):c.1399A>G (p.Met467Val)
NM_000183.3(HADHB):c.1405G>A (p.Val469Met)	rs1673196031
NM_000183.3(HADHB):c.1409A>C (p.Glu470Ala)	rs2147837732
NM_000183.3(HADHB):c.149A>T (p.Asn50Ile)
NM_000183.3(HADHB):c.150T>A (p.Asn50Lys)
NM_000183.3(HADHB):c.166G>T (p.Val56Leu)
NM_000183.3(HADHB):c.206C>G (p.Thr69Ser)
NM_000183.3(HADHB):c.210-17T>A
NM_000183.3(HADHB):c.210-5C>A	rs763169112
NM_000183.3(HADHB):c.214A>G (p.Lys72Glu)
NM_000183.3(HADHB):c.221T>G (p.Leu74Arg)
NM_000183.3(HADHB):c.223A>T (p.Met75Leu)
NM_000183.3(HADHB):c.248C>T (p.Ala83Val)
NM_000183.3(HADHB):c.254C>T (p.Thr85Met)
NM_000183.3(HADHB):c.260T>C (p.Leu87Ser)	rs1171889657
NM_000183.3(HADHB):c.299A>G (p.Tyr100Cys)
NM_000183.3(HADHB):c.32T>C (p.Leu11Pro)
NM_000183.3(HADHB):c.341A>G (p.Asn114Ser)
NM_000183.3(HADHB):c.346G>T (p.Ala116Ser)	rs766228457
NM_000183.3(HADHB):c.355-12T>C
NM_000183.3(HADHB):c.388C>T (p.Pro130Ser)
NM_000183.3(HADHB):c.431C>T (p.Ala144Val)	rs1672561193
NM_000183.3(HADHB):c.443-10T>A
NM_000183.3(HADHB):c.469T>G (p.Cys157Gly)
NM_000183.3(HADHB):c.481G>A (p.Val161Met)
NM_000183.3(HADHB):c.491G>A (p.Gly164Asp)	rs1558356679
NM_000183.3(HADHB):c.496G>A (p.Glu166Lys)
NM_000183.3(HADHB):c.508G>A (p.Asp170Asn)
NM_000183.3(HADHB):c.556C>G (p.Leu186Val)
NM_000183.3(HADHB):c.632T>A (p.Leu211His)	rs1446857112
NM_000183.3(HADHB):c.652T>C (p.Ser218Pro)
NM_000183.3(HADHB):c.658A>G (p.Ser220Gly)
NM_000183.3(HADHB):c.65C>G (p.Ser22Cys)	rs1671530038
NM_000183.3(HADHB):c.679G>A (p.Ala227Thr)
NM_000183.3(HADHB):c.694G>A (p.Ala232Thr)	rs987203346
NM_000183.3(HADHB):c.694G>T (p.Ala232Ser)	rs987203346
NM_000183.3(HADHB):c.710C>G (p.Ser237Cys)
NM_000183.3(HADHB):c.716T>C (p.Leu239Pro)
NM_000183.3(HADHB):c.754G>A (p.Ala252Thr)	rs770044899
NM_000183.3(HADHB):c.80G>C (p.Ser27Thr)
NM_000183.3(HADHB):c.832G>C (p.Asp278His)	rs982733832
NM_000183.3(HADHB):c.863A>G (p.Gln288Arg)
NM_000183.3(HADHB):c.91C>G (p.Gln31Glu)
NM_000183.3(HADHB):c.923C>A (p.Ser308Tyr)
NM_000183.3(HADHB):c.930C>A (p.Phe310Leu)
NM_000183.3(HADHB):c.933+6del
NM_000183.3(HADHB):c.944C>T (p.Ala315Val)
NM_000183.3(HADHB):c.953T>G (p.Met318Arg)	rs2147829865
NM_000183.3(HADHB):c.965C>A (p.Ala322Glu)
NM_000183.3(HADHB):c.982G>A (p.Ala328Thr)
NM_000183.3(HADHB):c.989G>A (p.Gly330Asp)	rs1349682003
NM_000183.3(HADHB):c.994A>G (p.Lys332Glu)	rs777680722

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