ClinVar Miner

List of variants studied for P5CS deficiency by Illumina Laboratory Services, Illumina

Included ClinVar conditions (11):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 66
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HGVS dbSNP gnomAD frequency
NM_002860.4(ALDH18A1):c.*155G>A rs1053905 0.42481
NM_002860.4(ALDH18A1):c.2206+15G>A rs10882640 0.39029
NM_002860.4(ALDH18A1):c.*699C>T rs4037 0.28027
NM_002860.4(ALDH18A1):c.*412T>C rs8758 0.27959
NM_002860.4(ALDH18A1):c.896C>T (p.Thr299Ile) rs2275272 0.10214
NM_002860.4(ALDH18A1):c.-79A>G rs117502632 0.03469
NM_002860.4(ALDH18A1):c.1770C>T (p.Ser590=) rs11541780 0.03433
NM_002860.4(ALDH18A1):c.1977C>T (p.Ser659=) rs1804934 0.02975
NM_002860.4(ALDH18A1):c.1029T>C (p.Ile343=) rs41291566 0.02201
NM_002860.4(ALDH18A1):c.1115C>A (p.Ser372Tyr) rs3765571 0.01418
NM_002860.4(ALDH18A1):c.*611G>A rs41291562 0.01242
NM_002860.4(ALDH18A1):c.*140C>T rs76824727 0.00570
NM_002860.4(ALDH18A1):c.*56T>A rs114393346 0.00549
NM_002860.4(ALDH18A1):c.2207-3C>T rs149309642 0.00472
NM_002860.4(ALDH18A1):c.*292C>T rs78053774 0.00329
NM_002860.4(ALDH18A1):c.2001G>A (p.Glu667=) rs78731297 0.00326
NM_002860.4(ALDH18A1):c.2232G>A (p.Ser744=) rs148601288 0.00153
NM_002860.4(ALDH18A1):c.1329C>T (p.Ile443=) rs117709404 0.00134
NM_002860.4(ALDH18A1):c.*227A>G rs943341 0.00129
NM_002860.4(ALDH18A1):c.-29+10G>A rs571140165 0.00119
NM_002860.4(ALDH18A1):c.1308G>A (p.Leu436=) rs144816455 0.00112
NM_002860.4(ALDH18A1):c.2160C>T (p.Phe720=) rs374052426 0.00070
NM_002860.4(ALDH18A1):c.*698G>A rs557388312 0.00052
NM_002860.4(ALDH18A1):c.1314C>T (p.Ile438=) rs150526956 0.00042
NM_002860.4(ALDH18A1):c.*734C>A rs184009046 0.00035
NM_002860.4(ALDH18A1):c.492C>T (p.Ala164=) rs150472102 0.00032
NM_002860.4(ALDH18A1):c.933+13T>C rs201520042 0.00032
NM_002860.4(ALDH18A1):c.1153-13A>G rs370680325 0.00024
NM_002860.4(ALDH18A1):c.-5G>A rs371024575 0.00007
NM_002860.4(ALDH18A1):c.1604T>A (p.Leu535Gln) rs200452017 0.00007
NM_002860.4(ALDH18A1):c.2110+13A>G rs375782465 0.00007
NM_002860.4(ALDH18A1):c.973G>A (p.Val325Ile) rs192770256 0.00007
NM_002860.4(ALDH18A1):c.*293G>A rs913851343 0.00006
NM_002860.4(ALDH18A1):c.-140G>A rs931860076 0.00006
NM_002860.4(ALDH18A1):c.1596C>T (p.Ala532=) rs200730342 0.00006
NM_002860.4(ALDH18A1):c.2335A>G (p.Ser779Gly) rs143874727 0.00006
NM_002860.4(ALDH18A1):c.1368C>T (p.Arg456=) rs369979669 0.00004
NM_002860.4(ALDH18A1):c.1393G>A (p.Glu465Lys) rs757876226 0.00004
NM_002860.4(ALDH18A1):c.304-3C>T rs188362786 0.00004
NM_002860.4(ALDH18A1):c.1467+15C>T rs374652686 0.00003
NM_002860.4(ALDH18A1):c.933+14G>A rs546156675 0.00003
NM_002860.4(ALDH18A1):c.2098G>A (p.Val700Ile) rs375705932 0.00002
NM_002860.4(ALDH18A1):c.-44G>A rs1443127759 0.00001
NM_002860.4(ALDH18A1):c.1083T>C (p.Pro361=) rs886047512 0.00001
NM_002860.4(ALDH18A1):c.1315G>A (p.Gly439Ser) rs141292408 0.00001
NM_002860.4(ALDH18A1):c.2194C>T (p.Arg732Cys) rs760203992 0.00001
NM_002860.4(ALDH18A1):c.781C>A (p.Leu261Ile) rs200172733 0.00001
NM_002860.4(ALDH18A1):c.809-13G>A rs756690468 0.00001
NM_002860.4(ALDH18A1):c.809-3T>G rs755947818 0.00001
NM_002860.4(ALDH18A1):c.842C>T (p.Ala281Val) rs886047513 0.00001
NM_002860.4(ALDH18A1):c.934-7T>A rs772389382 0.00001
NM_002860.4(ALDH18A1):c.*202T>C rs886047509
NM_002860.4(ALDH18A1):c.*466T>G rs886047508
NM_002860.4(ALDH18A1):c.*644A>G rs1052895099
NM_002860.4(ALDH18A1):c.-120A>G rs181772739
NM_002860.4(ALDH18A1):c.-67C>T rs886047514
NM_002860.4(ALDH18A1):c.1169A>G (p.His390Arg) rs2097858992
NM_002860.4(ALDH18A1):c.1385A>G (p.Lys462Arg) rs886047511
NM_002860.4(ALDH18A1):c.1605+5G>A rs886047510
NM_002860.4(ALDH18A1):c.1740C>G (p.Ser580Arg) rs139035272
NM_002860.4(ALDH18A1):c.1740C>T (p.Ser580=) rs139035272
NM_002860.4(ALDH18A1):c.1788G>T (p.Lys596Asn) rs764910330
NM_002860.4(ALDH18A1):c.2135A>G (p.Gln712Arg) rs2097831329
NM_002860.4(ALDH18A1):c.264T>C (p.Cys88=) rs537733180
NM_002860.4(ALDH18A1):c.727G>C (p.Val243Leu) rs864321669
NM_002860.4(ALDH18A1):c.819C>T (p.Asp273=) rs752470665

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