ClinVar Miner

List of variants reported as likely pathogenic by Elsea Laboratory, Baylor College of Medicine

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Total variants: 62
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HGVS dbSNP gnomAD frequency
NM_000156.6(GAMT):c.79T>C (p.Tyr27His) rs200833152 0.00345
NM_004817.4(TJP2):c.185C>T (p.Thr62Met) rs138241615 0.00168
NM_001378120.1(MBD5):c.236G>A (p.Gly79Glu) rs34995577 0.00061
NM_001378120.1(MBD5):c.3842C>T (p.Thr1281Ile) rs145475623 0.00034
NM_004817.4(TJP2):c.3371C>T (p.Thr1124Met) rs376663560 0.00033
NM_001080.3(ALDH5A1):c.764A>G (p.Asn255Ser) rs145087265 0.00007
NM_001080.3(ALDH5A1):c.589G>A (p.Val197Met) rs768219929 0.00004
NM_001082971.2(DDC):c.286G>A (p.Gly96Arg) rs1285477390 0.00004
NM_000017.4(ACADS):c.934-5T>A rs749885391 0.00002
NM_001082971.2(DDC):c.260C>T (p.Pro87Leu) rs746244631 0.00002
NM_018006.5(TRMU):c.680G>C (p.Arg227Thr) rs764622793 0.00002
NM_000414.4(HSD17B4):c.1210-11C>G rs779466683 0.00001
NM_001080.3(ALDH5A1):c.1478A>G (p.Asn493Ser) rs776978579 0.00001
NM_001080.3(ALDH5A1):c.515G>A (p.Arg172His) rs773814880 0.00001
NM_001080.3(ALDH5A1):c.581C>T (p.Pro194Leu) rs1759249344 0.00001
NM_018706.7(DHTKD1):c.1118C>T (p.Pro373Leu) rs556384043 0.00001
NM_145199.3(LIPT1):c.212C>T (p.Ser71Phe) rs767568897 0.00001
NM_000194.3(HPRT1):c.610C>G (p.His204Asp) rs137852490
NM_000277.3(PAH):c.805A>C (p.Ile269Leu) rs62508692
NM_001080.3(ALDH5A1):c.1005C>A (p.Asn335Lys)
NM_001080.3(ALDH5A1):c.1014+723_1173+796del
NM_001080.3(ALDH5A1):c.1015-3C>G rs2127387935
NM_001080.3(ALDH5A1):c.1145C>A (p.Pro382Gln)
NM_001080.3(ALDH5A1):c.1145C>T (p.Pro382Leu)
NM_001080.3(ALDH5A1):c.1267A>G (p.Thr423Ala)
NM_001080.3(ALDH5A1):c.1267A>T (p.Thr423Ser)
NM_001080.3(ALDH5A1):c.1321G>A (p.Gly441Arg)
NM_001080.3(ALDH5A1):c.1429C>T (p.Gln477Ter)
NM_001080.3(ALDH5A1):c.1459G>C (p.Val487Leu)
NM_001080.3(ALDH5A1):c.1460T>A (p.Val487Glu)
NM_001080.3(ALDH5A1):c.1498G>C (p.Val500Leu) rs999671766
NM_001080.3(ALDH5A1):c.1501_1503del (p.Glu501del)
NM_001080.3(ALDH5A1):c.1508C>G (p.Pro503Arg)
NM_001080.3(ALDH5A1):c.1557T>G (p.Tyr519Ter)
NM_001080.3(ALDH5A1):c.275A>G (p.Asp92Gly)
NM_001080.3(ALDH5A1):c.277T>C (p.Cys93Arg)
NM_001080.3(ALDH5A1):c.354G>C (p.Lys118Asn)
NM_001080.3(ALDH5A1):c.371T>G (p.Leu124Arg)
NM_001080.3(ALDH5A1):c.384C>G (p.Tyr128Ter)
NM_001080.3(ALDH5A1):c.431C>A (p.Ala144Asp)
NM_001080.3(ALDH5A1):c.466G>A (p.Glu156Lys)
NM_001080.3(ALDH5A1):c.496T>C (p.Trp166Arg) rs2127382426
NM_001080.3(ALDH5A1):c.517C>T (p.Arg173Cys)
NM_001080.3(ALDH5A1):c.527G>A (p.Gly176Glu)
NM_001080.3(ALDH5A1):c.536T>A (p.Ile179Asn)
NM_001080.3(ALDH5A1):c.574A>T (p.Lys192Ter)
NM_001080.3(ALDH5A1):c.587G>A (p.Gly196Asp)
NM_001080.3(ALDH5A1):c.620C>T (p.Pro207Leu)
NM_001080.3(ALDH5A1):c.622A>C (p.Ser208Arg)
NM_001080.3(ALDH5A1):c.637C>G (p.Arg213Gly)
NM_001080.3(ALDH5A1):c.638G>T (p.Arg213Leu)
NM_001080.3(ALDH5A1):c.653C>A (p.Ala218Asp)
NM_001080.3(ALDH5A1):c.667T>C (p.Cys223Arg)
NM_001080.3(ALDH5A1):c.685C>T (p.Pro229Ser)
NM_001080.3(ALDH5A1):c.700C>T (p.Pro234Ser)
NM_001080.3(ALDH5A1):c.709G>A (p.Ala237Thr) rs62621664
NM_001080.3(ALDH5A1):c.754G>T (p.Gly252Cys)
NM_001080.3(ALDH5A1):c.755G>T (p.Gly252Val)
NM_001080.3(ALDH5A1):c.800T>G (p.Val267Gly)
NM_001080.3(ALDH5A1):c.851G>A (p.Gly284Asp)
NM_001080.3(ALDH5A1):c.916G>A (p.Glu306Lys)
NM_004493.3(HSD17B10):c.753C>G (p.Ile251Met) rs2075824424

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