ClinVar Miner

List of variants reported as likely pathogenic for Pyridoxine-dependent epilepsy by Invitae

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Total variants: 38
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HGVS dbSNP gnomAD frequency
NM_001182.5(ALDH7A1):c.365G>C (p.Arg122Pro) rs796052256 0.00006
NM_001182.5(ALDH7A1):c.529G>C (p.Ala177Pro) rs140102105 0.00006
NM_001182.5(ALDH7A1):c.1111C>T (p.Pro371Ser) rs1045606047 0.00001
NM_001182.5(ALDH7A1):c.1232C>T (p.Pro411Leu) rs780233639 0.00001
NM_001182.5(ALDH7A1):c.1376T>C (p.Ile459Thr) rs1057518529 0.00001
NC_000005.9:g.(?_125880657)_(125882101_?)del
NC_000005.9:g.(?_125881996)_(125882111_?)dup
NC_000005.9:g.(?_125896755)_(125896836_?)del
NC_000005.9:g.(?_125904022)_(125905143_?)del
NM_001182.5(ALDH7A1):c.1192G>A (p.Gly398Arg) rs1347421419
NM_001182.5(ALDH7A1):c.1318-1G>C rs1258470290
NM_001182.5(ALDH7A1):c.1435G>A (p.Gly479Ser)
NM_001182.5(ALDH7A1):c.1481G>C (p.Gly494Ala)
NM_001182.5(ALDH7A1):c.1490-1G>A
NM_001182.5(ALDH7A1):c.1578_1582del (p.Tyr526_Lys528delinsTer)
NM_001182.5(ALDH7A1):c.192G>C (p.Glu64Asp) rs1581409051
NM_001182.5(ALDH7A1):c.247-1G>C rs1060502949
NM_001182.5(ALDH7A1):c.316C>A (p.Pro106Thr)
NM_001182.5(ALDH7A1):c.365G>A (p.Arg122Gln) rs796052256
NM_001182.5(ALDH7A1):c.394-1G>C rs1064794053
NM_001182.5(ALDH7A1):c.394-2A>G rs1450133957
NM_001182.5(ALDH7A1):c.39_192+517del
NM_001182.5(ALDH7A1):c.427G>C (p.Gly143Arg)
NM_001182.5(ALDH7A1):c.428G>C (p.Gly143Ala)
NM_001182.5(ALDH7A1):c.517+5G>A
NM_001182.5(ALDH7A1):c.518-14_518delinsCA
NM_001182.5(ALDH7A1):c.518-2A>G
NM_001182.5(ALDH7A1):c.651-2A>G
NM_001182.5(ALDH7A1):c.774-2A>G
NM_001182.5(ALDH7A1):c.872-1G>T
NM_001182.5(ALDH7A1):c.898A>G (p.Asn300Asp) rs1750388096
NM_001182.5(ALDH7A1):c.902A>G (p.Asn301Ser) rs121912711
NM_001182.5(ALDH7A1):c.914-2A>C rs1581368665
NM_001182.5(ALDH7A1):c.973A>G (p.Thr325Ala) rs2112768333
NM_001182.5(ALDH7A1):c.983A>G (p.Gln328Arg)
NM_001182.5(ALDH7A1):c.985A>T (p.Arg329Trp)
NM_001182.5(ALDH7A1):c.986G>C (p.Arg329Thr)
NM_001182.5(ALDH7A1):c.987G>T (p.Arg329Ser) rs761295869

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