ClinVar Miner

List of variants in gene ETFDH reported as likely pathogenic by Baylor Genetics

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Gene type:
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Total variants: 73
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HGVS dbSNP gnomAD frequency
NM_004453.4(ETFDH):c.1514T>C (p.Ile505Thr) rs764164607 0.00005
NM_004453.4(ETFDH):c.295C>T (p.Arg99Cys) rs371493232 0.00005
NM_004453.4(ETFDH):c.1234G>T (p.Glu412Ter) rs398124151 0.00004
NM_004453.4(ETFDH):c.1657T>C (p.Tyr553His) rs182913453 0.00004
NM_004453.4(ETFDH):c.406-1G>A rs750189181 0.00004
NM_004453.4(ETFDH):c.523C>T (p.Arg175Cys) rs762928354 0.00004
NM_004453.4(ETFDH):c.1084G>A (p.Gly362Arg) rs369711837 0.00003
NM_004453.4(ETFDH):c.405+3A>T rs796051965 0.00003
NM_004453.4(ETFDH):c.1832G>A (p.Gly611Glu) rs761669036 0.00002
NM_004453.4(ETFDH):c.176-2A>T rs1485038306 0.00001
NM_004453.4(ETFDH):c.34G>C (p.Ala12Pro) rs1172887273 0.00001
NM_004453.4(ETFDH):c.652G>A (p.Asp218Asn) rs748289922 0.00001
NM_004453.4(ETFDH):c.733G>A (p.Ala245Thr) rs371260517 0.00001
NM_004453.4(ETFDH):c.79C>T (p.Pro27Ser) rs537038850 0.00001
NM_004453.4(ETFDH):c.835T>C (p.Trp279Arg) rs754082348 0.00001
NM_004453.4(ETFDH):c.1011del (p.Phe337fs) rs757063739
NM_004453.4(ETFDH):c.1019del (p.Phe340fs)
NM_004453.4(ETFDH):c.1031_1034del (p.Lys344fs)
NM_004453.4(ETFDH):c.104C>A (p.Ser35Ter)
NM_004453.4(ETFDH):c.1134del (p.Pro380fs) rs1369800014
NM_004453.4(ETFDH):c.1136_1140del (p.Phe379fs) rs2126309189
NM_004453.4(ETFDH):c.1166del (p.Pro389fs)
NM_004453.4(ETFDH):c.1245dup (p.Asn416Ter)
NM_004453.4(ETFDH):c.1274C>G (p.Ser425Ter)
NM_004453.4(ETFDH):c.1361dup (p.Arg455fs)
NM_004453.4(ETFDH):c.1417dup (p.Ile473fs)
NM_004453.4(ETFDH):c.1433del (p.Ile477_Leu478insTer)
NM_004453.4(ETFDH):c.1447_1454del (p.Pro483fs)
NM_004453.4(ETFDH):c.1454C>G (p.Thr485Ser)
NM_004453.4(ETFDH):c.1461del (p.Lys487fs)
NM_004453.4(ETFDH):c.1555_1556del (p.Leu519fs) rs1774630121
NM_004453.4(ETFDH):c.1631dup (p.Pro545fs) rs771393519
NM_004453.4(ETFDH):c.1646del (p.Asn549fs)
NM_004453.4(ETFDH):c.1652C>A (p.Ser551Ter)
NM_004453.4(ETFDH):c.1656dup (p.Tyr553fs)
NM_004453.4(ETFDH):c.1658_1659del (p.Ile552_Tyr553insTer)
NM_004453.4(ETFDH):c.1699G>A (p.Glu567Lys)
NM_004453.4(ETFDH):c.170G>A (p.Trp57Ter)
NM_004453.4(ETFDH):c.1717C>T (p.Gln573Ter)
NM_004453.4(ETFDH):c.1795C>T (p.Gln599Ter)
NM_004453.4(ETFDH):c.244T>C (p.Ser82Pro)
NM_004453.4(ETFDH):c.245C>T (p.Ser82Phe)
NM_004453.4(ETFDH):c.251C>T (p.Ala84Val) rs1580396712
NM_004453.4(ETFDH):c.269T>A (p.Leu90Ter) rs749085653
NM_004453.4(ETFDH):c.299T>A (p.Val100Glu)
NM_004453.4(ETFDH):c.336_345del (p.His112fs)
NM_004453.4(ETFDH):c.34+1G>A
NM_004453.4(ETFDH):c.34+5G>C rs1373597092
NM_004453.4(ETFDH):c.344C>G (p.Ser115Ter) rs2150305273
NM_004453.4(ETFDH):c.393G>A (p.Trp131Ter)
NM_004453.4(ETFDH):c.405+3A>G rs796051965
NM_004453.4(ETFDH):c.430G>T (p.Glu144Ter)
NM_004453.4(ETFDH):c.462C>G (p.Tyr154Ter) rs878853082
NM_004453.4(ETFDH):c.463A>G (p.Arg155Gly) rs549150456
NM_004453.4(ETFDH):c.485_487+14delinsT rs796051963
NM_004453.4(ETFDH):c.560C>T (p.Ala187Val) rs369912835
NM_004453.4(ETFDH):c.56del (p.Ala18_Leu19insTer) rs2150304339
NM_004453.4(ETFDH):c.577del (p.Glu193fs)
NM_004453.4(ETFDH):c.583_584dup (p.Pro196fs) rs2150306625
NM_004453.4(ETFDH):c.606+1G>T
NM_004453.4(ETFDH):c.607-1G>A
NM_004453.4(ETFDH):c.643G>A (p.Ala215Thr)
NM_004453.4(ETFDH):c.665A>C (p.Gln222Pro) rs1482632936
NM_004453.4(ETFDH):c.685-1G>A
NM_004453.4(ETFDH):c.685_691delinsTCCAG (p.Ala229fs)
NM_004453.4(ETFDH):c.723del (p.Thr242fs)
NM_004453.4(ETFDH):c.783_787del (p.Asp261fs)
NM_004453.4(ETFDH):c.786G>T (p.Leu262Phe) rs1450977775
NM_004453.4(ETFDH):c.831+1G>A
NM_004453.4(ETFDH):c.920C>G (p.Ser307Cys)
NM_004453.4(ETFDH):c.92delinsTA (p.Thr31fs)
NM_004453.4(ETFDH):c.972+1del
NM_004453.4(ETFDH):c.998A>G (p.Tyr333Cys)

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