ClinVar Miner

List of variants studied for obsolete Leigh syndrome with leukodystrophy

Included ClinVar conditions (1):
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ClinVar version:
Total variants: 67
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HGVS dbSNP gnomAD frequency
NM_004092.4(ECHS1):c.739+22C>G rs6537598 0.92765
NM_004092.4(ECHS1):c.224C>T (p.Thr75Ile) rs1049951 0.81846
NM_004092.4(ECHS1):c.32T>C (p.Val11Ala) rs10466126 0.62082
NM_004092.4(ECHS1):c.286+8C>T rs189727187 0.01158
NM_004092.4(ECHS1):c.808-17G>A rs114654147 0.00506
NM_004092.4(ECHS1):c.240G>A (p.Pro80=) rs35775473 0.00380
NM_004092.4(ECHS1):c.489G>A (p.Pro163=) rs140410716 0.00042
NM_004092.4(ECHS1):c.343A>C (p.Lys115Gln) rs369960115 0.00014
NM_004092.4(ECHS1):c.518C>T (p.Ala173Val) rs150321966 0.00012
NM_004092.4(ECHS1):c.476A>G (p.Gln159Arg) rs375032130 0.00009
NM_004092.4(ECHS1):c.583G>A (p.Gly195Ser) rs761989177 0.00006
NM_004092.4(ECHS1):c.538A>G (p.Thr180Ala) rs557128093 0.00004
NM_004092.4(ECHS1):c.5C>T (p.Ala2Val) rs587776498 0.00004
NM_004092.4(ECHS1):c.488C>T (p.Pro163Leu) rs371582393 0.00003
NM_004092.4(ECHS1):c.8C>T (p.Ala3Val) rs372408822 0.00003
NM_004092.4(ECHS1):c.161G>A (p.Arg54His) rs375266808 0.00002
NM_004092.4(ECHS1):c.394G>A (p.Ala132Thr) rs770931871 0.00002
NM_004092.4(ECHS1):c.713C>T (p.Ala238Val) rs200584793 0.00002
NM_004092.4(ECHS1):c.814C>T (p.Arg272Trp) rs772585791 0.00002
NM_004092.4(ECHS1):c.817A>G (p.Lys273Glu) rs565090080 0.00002
NM_004092.4(ECHS1):c.160C>T (p.Arg54Cys) rs758723288 0.00001
NM_004092.4(ECHS1):c.176A>G (p.Asn59Ser) rs201865375 0.00001
NM_004092.4(ECHS1):c.213G>A (p.Gln71=) rs765131350 0.00001
NM_004092.4(ECHS1):c.268G>A (p.Gly90Arg) rs1085307550 0.00001
NM_004092.4(ECHS1):c.414+1G>A rs754815893 0.00001
NM_004092.4(ECHS1):c.444G>T (p.Met148Ile) rs752225756 0.00001
NM_004092.4(ECHS1):c.523G>A (p.Gly175Ser) rs962504241 0.00001
NM_004092.4(ECHS1):c.541C>T (p.Arg181Cys) rs754609693 0.00001
NM_004092.4(ECHS1):c.676G>A (p.Ala226Thr) rs1318391499 0.00001
NM_004092.4(ECHS1):c.72G>A (p.Trp24Ter) rs776926045 0.00001
NM_004092.4(ECHS1):c.740C>T (p.Ala247Val) rs762885546 0.00001
NM_004092.4(ECHS1):c.796A>G (p.Thr266Ala) rs770614061 0.00001
NM_004092.4(ECHS1):c.830C>T (p.Thr277Ile) rs775650144 0.00001
NM_004092.4(ECHS1):c.833C>T (p.Ala278Val) rs923554493 0.00001
NM_004092.4(ECHS1):c.88+5G>A rs761464256 0.00001
NC_000010.10:g.(?_135175966)_(135180498_135182426)del
NM_004092.4(ECHS1):c.123_124del (p.Gly42fs) rs746519257
NM_004092.4(ECHS1):c.197T>C (p.Ile66Thr)
NM_004092.4(ECHS1):c.1A>T (p.Met1Leu) rs753557738
NM_004092.4(ECHS1):c.202G>A (p.Glu68Lys)
NM_004092.4(ECHS1):c.229G>C (p.Glu77Gln) rs1426014295
NM_004092.4(ECHS1):c.23T>C (p.Leu8Pro) rs775833766
NM_004092.4(ECHS1):c.250G>A (p.Ala84Thr) rs2133443188
NM_004092.4(ECHS1):c.268G>C (p.Gly90Arg) rs1085307550
NM_004092.4(ECHS1):c.299T>C (p.Ile100Thr)
NM_004092.4(ECHS1):c.2T>G (p.Met1Arg) rs587776497
NM_004092.4(ECHS1):c.410_411del (p.Tyr137fs) rs777218310
NM_004092.4(ECHS1):c.413C>T (p.Ala138Val) rs864309656
NM_004092.4(ECHS1):c.414+3G>C rs786204002
NM_004092.4(ECHS1):c.440T>C (p.Met147Thr)
NM_004092.4(ECHS1):c.457T>A (p.Tyr153Asn) rs2133441975
NM_004092.4(ECHS1):c.467A>G (p.Glu156Gly) rs1849069405
NM_004092.4(ECHS1):c.473C>A (p.Ala158Asp) rs786204001
NM_004092.4(ECHS1):c.53dup (p.Val19fs)
NM_004092.4(ECHS1):c.563C>T (p.Ala188Val) rs1164154836
NM_004092.4(ECHS1):c.582T>C (p.Thr194=) rs2230261
NM_004092.4(ECHS1):c.601C>T (p.Gln201Ter)
NM_004092.4(ECHS1):c.616G>A (p.Ala206Thr)
NM_004092.4(ECHS1):c.62G>C (p.Cys21Ser) rs1436440154
NM_004092.4(ECHS1):c.637T>C (p.Cys213Arg) rs1589880497
NM_004092.4(ECHS1):c.673T>C (p.Cys225Arg)
NM_004092.4(ECHS1):c.67G>C (p.Ala23Pro) rs759853219
NM_004092.4(ECHS1):c.688G>A (p.Ala230Thr) rs201621364
NM_004092.4(ECHS1):c.74G>C (p.Arg25Pro) rs1554886769
NM_004092.4(ECHS1):c.836T>C (p.Phe279Ser) rs1554885535
NM_004092.4(ECHS1):c.847A>G (p.Arg283Gly) rs1589878956
NM_004092.4(ECHS1):c.856_857dup (p.Asn286fs) rs1554885530

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