ClinVar Miner

List of variants in gene ETFB reported as likely benign for hypertrophic cardiomyopathy

Included ClinVar conditions (244):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 147
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HGVS dbSNP gnomAD frequency
NM_001985.3(ETFB):c.58-318_58-313dup rs61361626 0.08041
NM_001985.3(ETFB):c.58-96G>A rs140608276 0.00376
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.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.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.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.705C>T (p.Ala235=) rs760012472 0.00004
NM_001985.3(ETFB):c.135G>A (p.Ala45=) rs372040033 0.00003
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.151C>A (p.Arg51=) rs1308673942 0.00001
NM_001985.3(ETFB):c.189C>T (p.Ala63=) rs267605609 0.00001
NM_001985.3(ETFB):c.439-14C>T rs756770328 0.00001
NM_001985.3(ETFB):c.57+16del rs529887209 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.90C>A (p.Val30=) rs1986016385 0.00001
NM_001985.3(ETFB):c.111C>T (p.Ser37=)
NM_001985.3(ETFB):c.117C>T (p.Asn39=) rs2123591099
NM_001985.3(ETFB):c.123C>T (p.Phe41=)
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.138G>C (p.Val46=) rs537142189
NM_001985.3(ETFB):c.156C>G (p.Leu52=)
NM_001985.3(ETFB):c.15C>T (p.Arg5=)
NM_001985.3(ETFB):c.174G>A (p.Val58=)
NM_001985.3(ETFB):c.180G>A (p.Glu60=)
NM_001985.3(ETFB):c.186C>T (p.Ile62=)
NM_001985.3(ETFB):c.201G>A (p.Gly67=)
NM_001985.3(ETFB):c.216+10G>A
NM_001985.3(ETFB):c.216+12C>T
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.231C>T (p.Thr77=)
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.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.285A>G (p.Glu95=)
NM_001985.3(ETFB):c.297G>A (p.Leu99=)
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.327C>A (p.Ala109=)
NM_001985.3(ETFB):c.33G>A (p.Lys11=)
NM_001985.3(ETFB):c.351G>A (p.Val117=)
NM_001985.3(ETFB):c.355C>T (p.Leu119=)
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+7G>C
NM_001985.3(ETFB):c.376-12C>T
NM_001985.3(ETFB):c.376-7C>T
NM_001985.3(ETFB):c.381C>T (p.Ile127=)
NM_001985.3(ETFB):c.414A>G (p.Thr138=) rs1178011139
NM_001985.3(ETFB):c.438+12G>T
NM_001985.3(ETFB):c.438+13T>G
NM_001985.3(ETFB):c.438+7C>T
NM_001985.3(ETFB):c.439-18T>C
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.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.492G>A (p.Arg164=)
NM_001985.3(ETFB):c.498C>T (p.Ile166=) rs150636733
NM_001985.3(ETFB):c.504G>C (p.Gly168=)
NM_001985.3(ETFB):c.519G>C (p.Leu173=) rs933129897
NM_001985.3(ETFB):c.531G>A (p.Leu177=)
NM_001985.3(ETFB):c.553C>T (p.Leu185=)
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.58-20C>T
NM_001985.3(ETFB):c.58-8_58-6del
NM_001985.3(ETFB):c.588C>G (p.Pro196=)
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+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.598-6G>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.61C>A (p.Arg21=)
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.690G>A (p.Pro230=)
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.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.762G>T (p.Arg254=) rs2123567151
NM_001985.3(ETFB):c.93G>C (p.Thr31=)
NM_001985.3(ETFB):c.99T>C (p.Gly33=) rs2123591146
NM_001985.3(ETFB):c.9G>A (p.Glu3=) rs2123621091

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