List of variants in gene ETFB studied for hypertrophic cardiomyopathy

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 271

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_001985.3(ETFB):c.461C>T (p.Thr154Met)	rs1130426	0.52772
NM_001985.3(ETFB):c.58-318_58-313dup	rs61361626	0.08041
NM_001985.3(ETFB):c.438+20C>T	rs114985874	0.00662
NM_001985.3(ETFB):c.58-96G>A	rs140608276	0.00376
NM_001985.3(ETFB):c.447C>T (p.Phe149=)	rs144640661	0.00334
NM_001985.3(ETFB):c.58-212A>C	rs143144671	0.00299
NM_001985.3(ETFB):c.292C>T (p.Arg98Cys)	rs147353781	0.00133
NM_001985.3(ETFB):c.521G>A (p.Arg174His)	rs141917423	0.00130
NM_001985.3(ETFB):c.709G>A (p.Val237Ile)	rs149129214	0.00027
NM_001985.3(ETFB):c.278C>T (p.Pro93Leu)	rs139519507	0.00026
NM_001985.3(ETFB):c.541G>A (p.Val181Met)	rs148443220	0.00022
NM_001985.3(ETFB):c.227G>A (p.Arg76His)	rs148567433	0.00021
NM_001985.3(ETFB):c.452C>T (p.Ser151Phe)	rs74735908	0.00019
NM_001985.3(ETFB):c.577G>A (p.Ala193Thr)	rs200186078	0.00016
NM_001985.3(ETFB):c.264C>T (p.His88=)	rs562266125	0.00015
NM_001985.3(ETFB):c.40A>C (p.Ile14Leu)	rs148261223	0.00011
NM_001985.3(ETFB):c.565G>A (p.Glu189Lys)	rs376065198	0.00008
NM_001985.3(ETFB):c.18G>C (p.Val6=)	rs572600030	0.00007
NM_001985.3(ETFB):c.402A>G (p.Thr134=)	rs754039782	0.00007
NM_001985.3(ETFB):c.761G>A (p.Arg254Gln)	rs145173884	0.00007
NM_001985.3(ETFB):c.118C>A (p.Pro40Thr)	rs772322071	0.00006
NM_001985.3(ETFB):c.184A>G (p.Ile62Val)	rs199705168	0.00006
NM_001985.3(ETFB):c.706G>A (p.Gly236Ser)	rs375326450	0.00006
NM_001985.3(ETFB):c.708C>T (p.Gly236=)	rs749837573	0.00006
NM_001985.3(ETFB):c.81C>T (p.Thr27=)	rs374819445	0.00006
NM_001985.3(ETFB):c.216+7A>G	rs910583174	0.00005
NM_001985.3(ETFB):c.582G>A (p.Thr194=)	rs376679757	0.00005
NM_001985.3(ETFB):c.133G>A (p.Ala45Thr)	rs151108898	0.00004
NM_001985.3(ETFB):c.257G>C (p.Gly86Ala)	rs143568332	0.00004
NM_001985.3(ETFB):c.705C>T (p.Ala235=)	rs760012472	0.00004
NM_001985.3(ETFB):c.82G>A (p.Gly28Ser)	rs750230877	0.00004
NM_001985.3(ETFB):c.135G>A (p.Ala45=)	rs372040033	0.00003
NM_001985.3(ETFB):c.142G>A (p.Glu48Lys)	rs750117869	0.00003
NM_001985.3(ETFB):c.217-4G>T	rs149557388	0.00003
NM_001985.3(ETFB):c.232G>A (p.Ala78Thr)	rs548046212	0.00003
NM_001985.3(ETFB):c.274C>T (p.Pro92Ser)	rs758509148	0.00003
NM_001985.3(ETFB):c.598A>G (p.Lys200Glu)	rs920672041	0.00003
NM_001985.3(ETFB):c.618C>T (p.Ile206=)	rs533794107	0.00003
NM_001985.3(ETFB):c.687C>A (p.Asp229Glu)	rs200877363	0.00003
NM_001985.3(ETFB):c.134C>T (p.Ala45Val)	rs770414295	0.00002
NM_001985.3(ETFB):c.316C>T (p.Arg106Trp)	rs748730384	0.00002
NM_001985.3(ETFB):c.382G>A (p.Asp128Asn)	rs104894678	0.00002
NM_001985.3(ETFB):c.393T>C (p.Cys131=)	rs371564310	0.00002
NM_001985.3(ETFB):c.439-20C>G	rs755291156	0.00002
NM_001985.3(ETFB):c.57+7G>C	rs759897705	0.00002
NM_001985.3(ETFB):c.576C>T (p.Tyr192=)	rs748162444	0.00002
NM_001985.3(ETFB):c.702G>A (p.Thr234=)	rs769668781	0.00002
NM_001985.3(ETFB):c.113T>C (p.Met38Thr)	rs775541180	0.00001
NM_001985.3(ETFB):c.151C>A (p.Arg51=)	rs1308673942	0.00001
NM_001985.3(ETFB):c.189C>T (p.Ala63=)	rs267605609	0.00001
NM_001985.3(ETFB):c.293G>A (p.Arg98His)	rs761063406	0.00001
NM_001985.3(ETFB):c.438+5G>T	rs1450691951	0.00001
NM_001985.3(ETFB):c.439-14C>T	rs756770328	0.00001
NM_001985.3(ETFB):c.490C>T (p.Arg164Trp)	rs148045813	0.00001
NM_001985.3(ETFB):c.57+16del	rs529887209	0.00001
NM_001985.3(ETFB):c.571C>T (p.Arg191Cys)	rs772976948	0.00001
NM_001985.3(ETFB):c.572G>A (p.Arg191His)	rs769951998	0.00001
NM_001985.3(ETFB):c.58-57C>T	rs766066977	0.00001
NM_001985.3(ETFB):c.58-87A>C	rs1986023015	0.00001
NM_001985.3(ETFB):c.597+6C>T	rs539989327	0.00001
NM_001985.3(ETFB):c.597+8C>T	rs758639864	0.00001
NM_001985.3(ETFB):c.598-14C>T	rs750381743	0.00001
NM_001985.3(ETFB):c.645dup (p.Val216fs)	rs1428088327	0.00001
NM_001985.3(ETFB):c.90C>A (p.Val30=)	rs1986016385	0.00001
NM_001985.3(ETFB):c.92C>T (p.Thr31Met)	rs371751519	0.00001
NC_000019.9:g.(?_51848465)_(51850332_?)del
NC_000019.9:g.(?_51848465)_(51856564_?)dup
NC_000019.9:g.(?_51850134)_(51869580_?)del
NC_000019.9:g.(?_51869504)_(51869580_?)del
NM_001985.3(ETFB):c.111C>T (p.Ser37=)
NM_001985.3(ETFB):c.117C>T (p.Asn39=)	rs2123591099
NM_001985.3(ETFB):c.122T>C (p.Phe41Ser)	rs746082442
NM_001985.3(ETFB):c.123C>T (p.Phe41=)
NM_001985.3(ETFB):c.124T>C (p.Cys42Arg)
NM_001985.3(ETFB):c.12G>A (p.Leu4=)
NM_001985.3(ETFB):c.12G>C (p.Leu4=)
NM_001985.3(ETFB):c.132C>T (p.Ile44=)	rs374935848
NM_001985.3(ETFB):c.135G>C (p.Ala45=)
NM_001985.3(ETFB):c.136del (p.Val46fs)
NM_001985.3(ETFB):c.138G>C (p.Val46=)	rs537142189
NM_001985.3(ETFB):c.14G>T (p.Arg5Leu)
NM_001985.3(ETFB):c.151C>G (p.Arg51Gly)
NM_001985.3(ETFB):c.152G>A (p.Arg51Gln)
NM_001985.3(ETFB):c.156C>G (p.Leu52=)
NM_001985.3(ETFB):c.15C>T (p.Arg5=)
NM_001985.3(ETFB):c.163A>T (p.Lys55Ter)
NM_001985.3(ETFB):c.166A>C (p.Lys56Gln)
NM_001985.3(ETFB):c.174G>A (p.Val58=)
NM_001985.3(ETFB):c.178G>T (p.Glu60Ter)
NM_001985.3(ETFB):c.180G>A (p.Glu60=)
NM_001985.3(ETFB):c.186C>G (p.Ile62Met)
NM_001985.3(ETFB):c.186C>T (p.Ile62=)
NM_001985.3(ETFB):c.190G>A (p.Val64Ile)
NM_001985.3(ETFB):c.201G>A (p.Gly67=)
NM_001985.3(ETFB):c.208del (p.Gln70fs)
NM_001985.3(ETFB):c.216+10G>A
NM_001985.3(ETFB):c.216+12C>T
NM_001985.3(ETFB):c.216+18del
NM_001985.3(ETFB):c.216+1G>C
NM_001985.3(ETFB):c.216+20G>C
NM_001985.3(ETFB):c.217-14T>G
NM_001985.3(ETFB):c.217-15C>T
NM_001985.3(ETFB):c.222G>A (p.Thr74=)
NM_001985.3(ETFB):c.225T>A (p.Ile75=)
NM_001985.3(ETFB):c.22G>A (p.Val8Ile)	rs531136177
NM_001985.3(ETFB):c.22G>C (p.Val8Leu)
NM_001985.3(ETFB):c.231C>T (p.Thr77=)
NM_001985.3(ETFB):c.247G>A (p.Ala83Thr)	rs1352787179
NM_001985.3(ETFB):c.252C>T (p.Asp84=)	rs1599842126
NM_001985.3(ETFB):c.253C>A (p.Arg85=)	rs187424345
NM_001985.3(ETFB):c.253C>T (p.Arg85Ter)	rs187424345
NM_001985.3(ETFB):c.254G>A (p.Arg85Gln)
NM_001985.3(ETFB):c.257G>T (p.Gly86Val)
NM_001985.3(ETFB):c.259A>G (p.Ile87Val)	rs2123587270
NM_001985.3(ETFB):c.267G>A (p.Val89=)	rs984710058
NM_001985.3(ETFB):c.267G>T (p.Val89=)
NM_001985.3(ETFB):c.273G>A (p.Val91=)
NM_001985.3(ETFB):c.282A>G (p.Ala94=)
NM_001985.3(ETFB):c.284_293del (p.Glu95fs)	rs2123587098
NM_001985.3(ETFB):c.285A>G (p.Glu95=)
NM_001985.3(ETFB):c.297G>A (p.Leu99=)
NM_001985.3(ETFB):c.2T>C (p.Met1Thr)
NM_001985.3(ETFB):c.306G>A (p.Leu102=)
NM_001985.3(ETFB):c.30C>G (p.Val10=)
NM_001985.3(ETFB):c.315T>A (p.Ala105=)
NM_001985.3(ETFB):c.324G>A (p.Leu108=)
NM_001985.3(ETFB):c.326C>A (p.Ala109Asp)
NM_001985.3(ETFB):c.327C>A (p.Ala109=)
NM_001985.3(ETFB):c.32dup (p.Arg12fs)
NM_001985.3(ETFB):c.334G>T (p.Ala112Ser)
NM_001985.3(ETFB):c.33G>A (p.Lys11=)
NM_001985.3(ETFB):c.341_342delinsT (p.Lys114fs)
NM_001985.3(ETFB):c.341_375+154del
NM_001985.3(ETFB):c.343_345del (p.Glu115del)
NM_001985.3(ETFB):c.351G>A (p.Val117=)
NM_001985.3(ETFB):c.353A>G (p.Asp118Gly)
NM_001985.3(ETFB):c.355C>T (p.Leu119=)
NM_001985.3(ETFB):c.358G>T (p.Val120Leu)
NM_001985.3(ETFB):c.362del (p.Leu121fs)
NM_001985.3(ETFB):c.375+14G>A	rs757521352
NM_001985.3(ETFB):c.375+16C>T
NM_001985.3(ETFB):c.375+19C>T
NM_001985.3(ETFB):c.375+1G>A
NM_001985.3(ETFB):c.375+1G>C
NM_001985.3(ETFB):c.375+1G>T
NM_001985.3(ETFB):c.375+6T>G
NM_001985.3(ETFB):c.375+7G>C
NM_001985.3(ETFB):c.375G>C (p.Gln125His)
NM_001985.3(ETFB):c.376-12C>T
NM_001985.3(ETFB):c.376-2A>C
NM_001985.3(ETFB):c.376-7C>T
NM_001985.3(ETFB):c.381C>T (p.Ile127=)
NM_001985.3(ETFB):c.386dup (p.Asp129fs)
NM_001985.3(ETFB):c.395A>C (p.Asn132Thr)
NM_001985.3(ETFB):c.406C>T (p.Gln136Ter)
NM_001985.3(ETFB):c.411G>A (p.Met137Ile)
NM_001985.3(ETFB):c.414A>G (p.Thr138=)	rs1178011139
NM_001985.3(ETFB):c.426_427insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNTCTCCTGACCTCTAGATCCACCCGCCTCGGCCTCCCCAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCGACAGCTGGATTTCTT (p.Asp143delinsPhePhePhePhePhePheXaaXaaXaaXaaSerProAspLeuTer)	rs2123580195
NM_001985.3(ETFB):c.438+12G>T
NM_001985.3(ETFB):c.438+13T>G
NM_001985.3(ETFB):c.438+4A>G
NM_001985.3(ETFB):c.438+5G>A
NM_001985.3(ETFB):c.438+7C>T
NM_001985.3(ETFB):c.439-18T>C
NM_001985.3(ETFB):c.439-1G>A
NM_001985.3(ETFB):c.439-20_439-18del
NM_001985.3(ETFB):c.439-4C>T	rs2035246995
NM_001985.3(ETFB):c.450C>A (p.Ala150=)
NM_001985.3(ETFB):c.454C>T (p.Gln152Ter)
NM_001985.3(ETFB):c.456G>A (p.Gln152=)
NM_001985.3(ETFB):c.462G>A (p.Thr154=)
NM_001985.3(ETFB):c.480G>A (p.Leu160=)	rs2123572721
NM_001985.3(ETFB):c.48C>T (p.Tyr16=)	rs1201149156
NM_001985.3(ETFB):c.491G>A (p.Arg164Gln)	rs104894677
NM_001985.3(ETFB):c.492G>A (p.Arg164=)
NM_001985.3(ETFB):c.498C>G (p.Ile166Met)
NM_001985.3(ETFB):c.498C>T (p.Ile166=)	rs150636733
NM_001985.3(ETFB):c.499G>A (p.Asp167Asn)
NM_001985.3(ETFB):c.499G>C (p.Asp167His)	rs140614695
NM_001985.3(ETFB):c.49G>T (p.Ala17Ser)
NM_001985.3(ETFB):c.504G>C (p.Gly168=)
NM_001985.3(ETFB):c.519G>C (p.Leu173=)	rs933129897
NM_001985.3(ETFB):c.520C>G (p.Arg174Gly)	rs755539437
NM_001985.3(ETFB):c.520C>T (p.Arg174Cys)
NM_001985.3(ETFB):c.52G>T (p.Val18Leu)
NM_001985.3(ETFB):c.531G>A (p.Leu177=)
NM_001985.3(ETFB):c.53T>G (p.Val18Gly)
NM_001985.3(ETFB):c.553C>T (p.Leu185=)
NM_001985.3(ETFB):c.564C>A (p.Asn188Lys)
NM_001985.3(ETFB):c.564C>T (p.Asn188=)
NM_001985.3(ETFB):c.57+10C>A
NM_001985.3(ETFB):c.57+10C>T
NM_001985.3(ETFB):c.57+11C>A
NM_001985.3(ETFB):c.57+14C>G
NM_001985.3(ETFB):c.57+16T>C
NM_001985.3(ETFB):c.57+9G>A
NM_001985.3(ETFB):c.58-10T>C
NM_001985.3(ETFB):c.58-10T>G
NM_001985.3(ETFB):c.58-12C>T
NM_001985.3(ETFB):c.58-15C>T
NM_001985.3(ETFB):c.58-196_58-194del	rs768440463
NM_001985.3(ETFB):c.58-20C>T
NM_001985.3(ETFB):c.58-27C>T
NM_001985.3(ETFB):c.58-57dup	rs74357706
NM_001985.3(ETFB):c.58-8_58-6del
NM_001985.3(ETFB):c.588C>G (p.Pro196=)
NM_001985.3(ETFB):c.589A>G (p.Asn197Asp)	rs747411704
NM_001985.3(ETFB):c.597+12_597+25del	rs756531454
NM_001985.3(ETFB):c.597+13C>G
NM_001985.3(ETFB):c.597+17C>A	rs372586153
NM_001985.3(ETFB):c.597+17C>G
NM_001985.3(ETFB):c.597+17C>T
NM_001985.3(ETFB):c.597+18G>A
NM_001985.3(ETFB):c.597+19G>A
NM_001985.3(ETFB):c.597+1G>C	rs2123572141
NM_001985.3(ETFB):c.597+9C>G	rs1985800060
NM_001985.3(ETFB):c.597+9C>T
NM_001985.3(ETFB):c.598-10C>T
NM_001985.3(ETFB):c.598-15G>A
NM_001985.3(ETFB):c.598-15G>C
NM_001985.3(ETFB):c.598-18A>G
NM_001985.3(ETFB):c.598-1del	rs750961823
NM_001985.3(ETFB):c.598-3C>T
NM_001985.3(ETFB):c.598-6G>A
NM_001985.3(ETFB):c.598-7T>C
NM_001985.3(ETFB):c.598-8A>T
NM_001985.3(ETFB):c.598-9C>T
NM_001985.3(ETFB):c.59_63dup
NM_001985.3(ETFB):c.605AGA[3] (p.Lys205del)	rs767519060
NM_001985.3(ETFB):c.611A>G (p.Lys204Arg)
NM_001985.3(ETFB):c.61C>A (p.Arg21=)
NM_001985.3(ETFB):c.61C>T (p.Arg21Ter)
NM_001985.3(ETFB):c.61del (p.Arg21fs)
NM_001985.3(ETFB):c.622G>A (p.Val208Met)
NM_001985.3(ETFB):c.62G>A (p.Arg21Gln)	rs369216610
NM_001985.3(ETFB):c.631C>T (p.Pro211Ser)
NM_001985.3(ETFB):c.632C>A (p.Pro211His)	rs760907327
NM_001985.3(ETFB):c.636G>A (p.Gly212=)
NM_001985.3(ETFB):c.648G>T (p.Val216=)
NM_001985.3(ETFB):c.652C>T (p.Leu218=)
NM_001985.3(ETFB):c.654G>C (p.Leu218=)
NM_001985.3(ETFB):c.663G>A (p.Lys221=)
NM_001985.3(ETFB):c.666C>G (p.Leu222=)
NM_001985.3(ETFB):c.666C>T (p.Leu222=)
NM_001985.3(ETFB):c.669T>C (p.Ser223=)
NM_001985.3(ETFB):c.671_672del (p.Val224fs)
NM_001985.3(ETFB):c.676A>T (p.Ser226Cys)	rs2123567525
NM_001985.3(ETFB):c.690G>A (p.Pro230=)
NM_001985.3(ETFB):c.697C>T (p.Arg233Cys)	rs761714465
NM_001985.3(ETFB):c.69G>A (p.Lys23=)
NM_001985.3(ETFB):c.6G>A (p.Ala2=)
NM_001985.3(ETFB):c.6G>T (p.Ala2=)	rs2123621104
NM_001985.3(ETFB):c.705C>A (p.Ala235=)
NM_001985.3(ETFB):c.706G>C (p.Gly236Arg)
NM_001985.3(ETFB):c.715G>A (p.Val239Met)
NM_001985.3(ETFB):c.726T>C (p.Thr242=)
NM_001985.3(ETFB):c.72T>A (p.Pro24=)
NM_001985.3(ETFB):c.732C>T (p.Asp244=)
NM_001985.3(ETFB):c.747G>A (p.Leu249=)
NM_001985.3(ETFB):c.75C>T (p.Asp25=)
NM_001985.3(ETFB):c.760C>A (p.Arg254=)
NM_001985.3(ETFB):c.760C>T (p.Arg254Trp)	rs370522844
NM_001985.3(ETFB):c.762G>T (p.Arg254=)	rs2123567151
NM_001985.3(ETFB):c.78G>T (p.Arg26Ser)
NM_001985.3(ETFB):c.82G>C (p.Gly28Arg)
NM_001985.3(ETFB):c.93G>C (p.Thr31=)
NM_001985.3(ETFB):c.94del (p.Asp32fs)
NM_001985.3(ETFB):c.98G>A (p.Gly33Asp)
NM_001985.3(ETFB):c.99T>C (p.Gly33=)	rs2123591146
NM_001985.3(ETFB):c.9G>A (p.Glu3=)	rs2123621091
Single allele

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