ClinVar Miner

List of variants reported as pathogenic for nutritional deficiency disease by OMIM

Included ClinVar conditions (41):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 169
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HGVS dbSNP gnomAD frequency
NM_017986.4(SLC52A1):c.1134+11G>A rs141935493 0.00204
NM_016729.3(FOLR1):c.493+2T>C rs144637717 0.00134
NM_024514.5(CYP2R1):c.296T>C (p.Leu99Pro) rs61495246 0.00107
NM_015506.3(MMACHC):c.271dup (p.Arg91fs) rs398124292 0.00093
NM_018368.4(LMBRD1):c.1056del (p.Asn353fs) rs749272546 0.00062
NM_001370658.1(BTD):c.1308A>C (p.Gln436His) rs80338685 0.00046
NM_001081.4(CUBN):c.3890C>T (p.Pro1297Leu) rs121434430 0.00027
NM_001182.5(ALDH7A1):c.1279G>C (p.Glu427Gln) rs121912707 0.00024
NM_005142.3(CBLIF):c.79+1G>A rs147785187 0.00017
NM_172250.3(MMAA):c.433C>T (p.Arg145Ter) rs104893851 0.00017
NM_052845.4(MMAB):c.556C>T (p.Arg186Trp) rs28941784 0.00014
NM_001370658.1(BTD):c.1552C>T (p.Arg518Cys) rs80338686 0.00011
NM_015506.3(MMACHC):c.331C>T (p.Arg111Ter) rs121918242 0.00011
NM_001182.5(ALDH7A1):c.328C>T (p.Arg110Ter) rs121912708 0.00010
NM_001370658.1(BTD):c.1535C>T (p.Thr512Met) rs104893688 0.00010
NM_007198.4(PLPBP):c.207+1G>A rs767795673 0.00010
NM_000254.3(MTR):c.3518C>T (p.Pro1173Leu) rs121913578 0.00009
NM_005050.4(ABCD4):c.956A>G (p.Tyr319Cys) rs201777056 0.00009
NM_005142.3(CBLIF):c.137C>T (p.Ser46Leu) rs121434322 0.00008
NM_001081.4(CUBN):c.1010C>T (p.Pro337Leu) rs202153130 0.00007
NM_002454.3(MTRR):c.903+469T>C rs893229476 0.00007
NM_015506.3(MMACHC):c.482G>A (p.Arg161Gln) rs121918243 0.00007
NM_001370658.1(BTD):c.695A>G (p.Asp232Gly) rs28934601 0.00006
NM_007198.4(PLPBP):c.260C>T (p.Pro87Leu) rs755946598 0.00006
NM_000376.3(VDR):c.218G>A (p.Arg73Gln) rs121909791 0.00004
NM_000785.4(CYP27B1):c.1166G>A (p.Arg389His) rs118204009 0.00004
NM_000785.4(CYP27B1):c.1226C>T (p.Thr409Ile) rs118204008 0.00004
NM_000785.4(CYP27B1):c.262del (p.Val88fs) rs387906260 0.00004
NM_001182.5(ALDH7A1):c.834G>A (p.Val278=) rs201948406 0.00004
NM_030943.4(AMN):c.208-2A>G rs386834170 0.00004
NM_052845.4(MMAB):c.571C>T (p.Arg191Trp) rs376128990 0.00004
NM_181697.3(PRDX1):c.515-1G>T rs751828470 0.00004
NM_001352514.2(HLCS):c.1960+5G>A rs753887925 0.00003
NM_001352514.2(HLCS):c.1963C>T (p.Arg655Trp) rs119103229 0.00003
NM_018129.4(PNPO):c.686G>A (p.Arg229Gln) rs773450573 0.00003
NM_052845.4(MMAB):c.291-1G>A rs199971687 0.00003
NM_000376.3(VDR):c.149G>A (p.Arg50Gln) rs121909794 0.00002
NM_001352514.2(HLCS):c.2152G>A (p.Asp718Asn) rs119103228 0.00002
NM_001370658.1(BTD):c.1406A>C (p.Asn469Thr) rs104893692 0.00002
NM_015506.3(MMACHC):c.276G>T (p.Glu92Asp) rs556977618 0.00002
NM_015506.3(MMACHC):c.609G>A (p.Trp203Ter) rs587776889 0.00002
NM_015702.3(MMADHC):c.419dup (p.Tyr140Ter) rs397509363 0.00002
NM_018129.4(PNPO):c.364-1G>A rs774710082 0.00002
NM_030943.4(AMN):c.122C>T (p.Thr41Ile) rs119478058 0.00002
NM_052845.4(MMAB):c.548A>T (p.His183Leu) rs752866643 0.00002
NM_000254.3(MTR):c.1228G>C (p.Ala410Pro) rs121913582 0.00001
NM_000254.3(MTR):c.1753C>T (p.Arg585Ter) rs121913580 0.00001
NM_000254.3(MTR):c.340-166A>G rs1661117141 0.00001
NM_000376.3(VDR):c.88C>T (p.Arg30Ter) rs121909801 0.00001
NM_000376.3(VDR):c.941T>G (p.Ile314Ser) rs121909799 0.00001
NM_000785.4(CYP27B1):c.589+1G>A rs761780097 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_001370658.1(BTD):c.175C>T (p.Arg59Cys) rs104893687 0.00001
NM_001370658.1(BTD):c.40G>A (p.Gly14Ser) rs119103232 0.00001
NM_002454.3(MTRR):c.1361C>T (p.Ser454Leu) rs137853062 0.00001
NM_005050.4(ABCD4):c.542+1G>T rs769364566 0.00001
NM_007198.4(PLPBP):c.320-2A>G rs1057519424 0.00001
NM_007198.4(PLPBP):c.524T>C (p.Leu175Pro) rs752753379 0.00001
NM_007198.4(PLPBP):c.722G>A (p.Arg241Gln) rs760609867 0.00001
NM_015506.3(MMACHC):c.394C>T (p.Arg132Ter) rs121918241 0.00001
NM_016729.3(FOLR1):c.352C>T (p.Gln118Ter) rs121918405 0.00001
NM_016729.3(FOLR1):c.525C>A (p.Cys175Ter) rs121918406 0.00001
NM_018129.4(PNPO):c.685C>T (p.Arg229Trp) rs104894629 0.00001
NM_052845.4(MMAB):c.584G>A (p.Arg195His) rs756195708 0.00001
NM_172250.3(MMAA):c.283C>T (p.Gln95Ter) rs104893846 0.00001
MTR, IVS6AS, G-A, LYS203
MTRR, 4-BP DEL, NT1675
NG_033117.2:g.(12554_12700)_(13936_14029)del
NM_000060.2(BTD):c.[1207T>G;1330G>C]
NM_000060.2(BTD):c.[511G>A;1330G>C]
NM_000254.3(MTR):c.2114_2115del (p.Leu705fs) rs797044444
NM_000254.3(MTR):c.2640_2642del (p.Ile881del) rs797044443
NM_000254.3(MTR):c.2758C>G (p.His920Asp) rs121913579
NM_000254.3(MTR):c.3380dup (p.Ala1128fs) rs797044445
NM_000254.3(MTR):c.3613G>T (p.Glu1205Ter) rs121913581
NM_000355.4(TCN2):c.427+2T>G rs606231119
NM_000355.4(TCN2):c.581-176A>T rs372866837
NM_000355.4(TCN2):c.927_930del (p.Cys309fs) rs1157135425
NM_000355.4(TCN2):c.940+303_1106+746delinsCTGG
NM_000376.3(VDR):c.1036G>A (p.Val346Met) rs267607169
NM_000376.3(VDR):c.1171C>T (p.Arg391Cys) rs121909800
NM_000376.3(VDR):c.137G>A (p.Gly46Asp) rs121909797
NM_000376.3(VDR):c.239G>A (p.Arg80Gln) rs121909793
NM_000376.3(VDR):c.366del (p.Lys123fs) rs1592107753
NM_000376.3(VDR):c.454C>T (p.Gln152Ter) rs121909795
NM_000376.3(VDR):c.821G>T (p.Arg274Leu) rs121909796
NM_000376.3(VDR):c.885C>A (p.Tyr295Ter) rs121909792
NM_000376.3(VDR):c.915C>G (p.His305Gln) rs121909798
NM_000376.3(VDR):c.985G>A (p.Glu329Lys) rs121909802
NM_000376.3(VDR):c.98G>A (p.Gly33Asp) rs121909790
NM_000785.4(CYP27B1):c.1004G>C (p.Arg335Pro) rs28934606
NM_000785.4(CYP27B1):c.1027C>T (p.Leu343Phe) rs118204011
NM_000785.4(CYP27B1):c.1144C>T (p.Pro382Ser) rs28934607
NM_000785.4(CYP27B1):c.1165C>G (p.Arg389Gly) rs118204010
NM_000785.4(CYP27B1):c.1319_1325dup (p.Phe443fs) rs780950819
NM_000785.4(CYP27B1):c.201_204delinsCTTCG (p.Gln67fs) rs2140397731
NM_000785.4(CYP27B1):c.320G>A (p.Arg107His) rs28934604
NM_000785.4(CYP27B1):c.374G>A (p.Gly125Glu) rs28934605
NM_000785.4(CYP27B1):c.386+1G>A rs770204470
NM_000785.4(CYP27B1):c.566A>G (p.Glu189Gly) rs118204012
NM_000785.4(CYP27B1):c.631del (p.Glu211fs) rs387906258
NM_000785.4(CYP27B1):c.693del (p.Thr232fs) rs387906259
NM_000785.4(CYP27B1):c.962C>G (p.Thr321Arg) rs118204007
NM_001081.4(CUBN):c.2614_2615del (p.Asp872fs) rs386833777
NM_001081.4(CUBN):c.3329+1G>T rs1205598688
NM_001081.4(CUBN):c.3330-439C>G rs386833782
NM_001081.4(CUBN):c.3335G>A (p.Gly1112Glu) rs2131820786
NM_001182.5(ALDH7A1):c.1224T>G (p.Tyr408Ter) rs121912710
NM_001182.5(ALDH7A1):c.1597del (p.Ala533fs) rs387906574
NM_001182.5(ALDH7A1):c.312+2T>A rs1561672504
NM_001182.5(ALDH7A1):c.518-1G>C rs779494572
NM_001182.5(ALDH7A1):c.596C>T (p.Ala199Val) rs121912709
NM_001182.5(ALDH7A1):c.902A>T (p.Asn301Ile) rs121912711
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_001370658.1(BTD):c.1021T>G (p.Phe341Val) rs1204990361
NM_001370658.1(BTD):c.1167_1181delinsTTCCAATGGCC (p.Trp389fs) rs672601248
NM_001370658.1(BTD):c.1541C>T (p.Ala514Val) rs1210441433
NM_001370658.1(BTD):c.38_44delinsTCC (p.Cys13fs) rs80338684
NM_002454.3(MTRR):c.1459G>A (p.Gly487Arg) rs137853061
NM_002454.3(MTRR):c.1622_1623dup (p.Met542Ter) rs2126808021
NM_002454.3(MTRR):c.1725GTT[1] (p.Leu576del) rs2126812944
NM_005050.4(ABCD4):c.1456G>T (p.Gly486Cys) rs2080853826
NM_005050.4(ABCD4):c.1746_1747insCT (p.Glu583fs) rs387907315
NM_005142.3(CBLIF):c.1175dup (p.Thr393fs) rs1590854624
NM_005142.3(CBLIF):c.161del (p.Asn54fs) rs1590860794
NM_005142.3(CBLIF):c.183_186del (p.Met61fs) rs765896727
NM_005142.3(CBLIF):c.80-1G>A rs1590860877
NM_005334.3(HCFC1):c.-970T>C rs398122908
NM_005334.3(HCFC1):c.217G>A (p.Ala73Thr) rs397515487
NM_005334.3(HCFC1):c.218C>T (p.Ala73Val) rs397515486
NM_005334.3(HCFC1):c.344C>T (p.Ala115Val) rs397515485
NM_005334.3(HCFC1):c.674G>A (p.Ser225Asn) rs318240758
NM_007198.4(PLPBP):c.233C>G (p.Ser78Ter) rs1057519273
NM_015506.3(MMACHC):c.158T>C (p.Leu53Pro) rs756980496
NM_015506.3(MMACHC):c.276G>A (p.Glu92=) rs556977618
NM_015506.3(MMACHC):c.347T>C (p.Leu116Pro) rs121918240
NM_015506.3(MMACHC):c.464G>A (p.Gly155Glu) rs606231425
NM_015506.3(MMACHC):c.658_660del (p.Lys220del) rs398124296
NM_015506.3(MMACHC):c.81G>A (p.Gln27=) rs1553162317
NM_015702.3(MMADHC):c.696+3_696+6del rs397509364
NM_015702.3(MMADHC):c.748C>T (p.Arg250Ter) rs118204048
NM_016579.4(CD320):c.256GAG[2] (p.Glu88del) rs150384171
NM_016729.3(FOLR1):c.130_147dup (p.Lys44_Pro49dup) rs121918843
NM_018129.4(PNPO):c.520C>T (p.Gln174Ter) rs267606958
NM_018129.4(PNPO):c.674G>A (p.Arg225His)
NM_018129.4(PNPO):c.784T>C (p.Ter262Gln) rs104894631
NM_018368.4(LMBRD1):c.404del (p.Thr135fs) rs1562112641
NM_018368.4(LMBRD1):c.515_516del (p.Thr172fs) rs779151199
NM_024514.5(CYP2R1):c.124_137delinsCG (p.Gly42_Leu46delinsArg) rs1848879955
NM_024514.5(CYP2R1):c.367+1G>A rs202011621
NM_024514.5(CYP2R1):c.768dup (p.Leu257fs) rs1422405747
NM_030943.4(AMN):c.1006+11_1008del rs1566829097
NM_030943.4(AMN):c.1041_1042delinsCTC (p.Glu348fs) rs2139312594
NM_030943.4(AMN):c.14del (p.Gly5fs) rs386834168
NM_030943.4(AMN):c.206T>A (p.Met69Lys) rs375774640
NM_030943.4(AMN):c.35del (p.Gln12fs) rs769770182
NM_052845.4(MMAB):c.287T>C (p.Ile96Thr) rs864309509
NM_052845.4(MMAB):c.290G>A (p.Gly97Glu) rs864309511
NM_052845.4(MMAB):c.349-1G>C rs864309510
NM_052845.4(MMAB):c.567CCG[3] (p.Arg191dup) rs864309512
NM_052845.4(MMAB):c.573_577del (p.Ala192fs) rs1555274497
NM_172250.3(MMAA):c.260_261insATAAACTT (p.Asp87delinsGluTer)
NM_172250.3(MMAA):c.593_596del (p.Thr198fs) rs796051993
NM_172250.3(MMAA):c.620A>G (p.Tyr207Cys) rs104893849
NM_181697.3(PRDX1):c.515-2A>T rs1379672870

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