ClinVar Miner

List of variants studied for inborn disorder of branched-chain amino acid metabolism by OMIM

Included ClinVar conditions (11):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 77
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HGVS dbSNP gnomAD frequency
NM_001918.5(DBT):c.1150= (p.Ser384=) rs12021720 0.12900
NM_000108.5(DLD):c.685G>T (p.Gly229Cys) rs121964990 0.00016
NM_000709.4(BCKDHA):c.1312T>A (p.Tyr438Asn) rs137852870 0.00013
NM_001918.5(DBT):c.827T>G (p.Phe276Cys) rs121964999 0.00011
NM_183050.4(BCKDHB):c.548G>C (p.Arg183Pro) rs79761867 0.00010
NM_000108.5(DLD):c.1123G>A (p.Glu375Lys) rs121964992 0.00006
NM_001918.5(DBT):c.1018-550A>G rs796052135 0.00004
NM_001918.5(DBT):c.75_76del (p.Cys26fs) rs768832921 0.00004
NM_000108.5(DLD):c.1081A>G (p.Met361Val) rs121964993 0.00003
NM_001352514.2(HLCS):c.1960+5G>A rs753887925 0.00003
NM_001352514.2(HLCS):c.1963C>T (p.Arg655Trp) rs119103229 0.00003
NM_001352514.2(HLCS):c.2152G>A (p.Asp718Asn) rs119103228 0.00002
NM_005589.4(ALDH6A1):c.1261C>T (p.Pro421Ser) rs775391997 0.00002
NM_000108.5(DLD):c.104dup (p.Tyr35Ter) rs753234219 0.00001
NM_000108.5(DLD):c.1463C>T (p.Pro488Leu) rs121964988 0.00001
NM_000108.5(DLD):c.875+1G>A rs1328820332 0.00001
NM_000709.4(BCKDHA):c.745G>A (p.Gly249Ser) rs137852874 0.00001
NM_000709.4(BCKDHA):c.793C>T (p.Arg265Trp) rs137852873 0.00001
NM_000709.4(BCKDHA):c.868G>A (p.Gly290Arg) rs137852871 0.00001
NM_000709.4(BCKDHA):c.929C>G (p.Thr310Arg) rs137852875 0.00001
NM_001190.4(BCAT2):c.790G>A (p.Glu264Lys) rs767653663 0.00001
NM_001352514.2(HLCS):c.1088T>G (p.Leu363Arg) rs28934602 0.00001
NM_001352514.2(HLCS):c.1096dup (p.Ile366fs) rs773102942 0.00001
NM_001352514.2(HLCS):c.2182G>A (p.Gly728Ser) rs119103230 0.00001
NM_005589.4(ALDH6A1):c.1603C>T (p.Arg535Cys) rs367863044 0.00001
NM_005881.4(BCKDK):c.466C>T (p.Arg156Ter) rs397514573 0.00001
NM_014362.4(HIBCH):c.196C>T (p.Arg66Trp) rs757976755 0.00001
NM_014362.4(HIBCH):c.220-9T>G rs786200864 0.00001
NM_014362.4(HIBCH):c.365A>G (p.Tyr122Cys) rs121918329 0.00001
NM_014362.4(HIBCH):c.79-3C>G rs778922921 0.00001
BCAT2, INS/DEL, NT1154
BCKDHB, 8-BP INS, NT1109
NM_000108.5(DLD):c.1178T>C (p.Ile393Thr) rs121964991
NM_000108.5(DLD):c.140T>C (p.Ile47Thr) rs397514651
NM_000108.5(DLD):c.1436A>T (p.Asp479Val) rs397514649
NM_000108.5(DLD):c.1444A>G (p.Arg482Gly) rs397514650
NM_000108.5(DLD):c.1483A>G (p.Arg495Gly) rs121964989
NM_000108.5(DLD):c.214A>G (p.Lys72Glu) rs121964987
NM_000709.4(BCKDHA):c.117del (p.Arg40fs) rs398123489
NM_000709.4(BCKDHA):c.1226T>G (p.Phe409Cys) rs137852872
NM_000709.4(BCKDHA):c.792C>G (p.Cys264Trp) rs137852876
NM_000709.4(BCKDHA):c.861_868del (p.Gly288fs) rs794727847
NM_001190.4(BCAT2):c.1021G>A (p.Ala341Thr)
NM_001190.4(BCAT2):c.136_147del (p.His46_Pro49del)
NM_001190.4(BCAT2):c.509G>A (p.Arg170Gln) rs749866079
NM_001190.4(BCAT2):c.545T>G (p.Val182Gly)
NM_001190.4(BCAT2):c.600C>A (p.Tyr200Ter)
NM_001352514.2(HLCS):c.1151T>C (p.Leu384Pro) rs119103227
NM_001352514.2(HLCS):c.1223del (p.Gly408fs) rs771944310
NM_001352514.2(HLCS):c.2089G>A (p.Val697Met) rs119103231
NM_001918.3(DBT):c.1282-4142_*(434_435)del
NM_001918.3(DBT):c.434_435insAATACCTTGTTACCAGA
NM_001918.3:c.48_171del
NM_001918.5(DBT):c.1017+1del rs796052134
NM_001918.5(DBT):c.1355A>G (p.His452Arg) rs121965002
NM_001918.5(DBT):c.1448G>T (p.Ter483Leu) rs121965000
NM_001918.5(DBT):c.294C>G (p.Ile98Met) rs121965001
NM_001918.5(DBT):c.581C>G (p.Ser194Ter) rs121965003
NM_005589.4(ALDH6A1):c.1336G>A (p.Gly446Arg) rs72552258
NM_005589.4(ALDH6A1):c.184C>T (p.Pro62Ser) rs796065046
NM_005589.4(ALDH6A1):c.514T>C (p.Tyr172His) rs869320672
NM_005589.4(ALDH6A1):c.785C>A (p.Ser262Tyr) rs879255579
NM_005881.4(BCKDK):c.222del (p.Met74fs) rs2057392733
NM_005881.4(BCKDK):c.264+1G>C
NM_005881.4(BCKDK):c.671G>C (p.Arg224Pro) rs147210405
NM_014362.4(HIBCH):c.1033G>A (p.Gly345Ser) rs770114459
NM_014362.4(HIBCH):c.1128dup (p.Lys377Ter) rs863225062
NM_014362.4(HIBCH):c.129dup (p.Gly44fs) rs767597690
NM_014362.4(HIBCH):c.488G>T (p.Cys163Phe) rs74832989
NM_014362.4(HIBCH):c.852del (p.Leu284fs) rs1131692017
NM_014362.4(HIBCH):c.950G>A (p.Gly317Glu) rs786204004
NM_152542.5(PPM1K):c.1A>G (p.Met1Val)
NM_152542.5(PPM1K):c.417_418del (p.Thr140fs)
NM_183050.4(BCKDHB):c.1039-7_1039-4del rs1562242135
NM_183050.4(BCKDHB):c.356T>G (p.Val119Gly) rs121965005
NM_183050.4(BCKDHB):c.616C>T (p.His206Tyr) rs121965004
NM_183050.4(BCKDHB):c.93_103del (p.Ala32fs) rs398124601

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