ClinVar Miner

List of variants reported as likely pathogenic for spina bifida

Included ClinVar conditions (7):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 117
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HGVS dbSNP gnomAD frequency
NM_005957.5(MTHFR):c.459C>G (p.Ile153Met) rs767890671 0.00011
NM_005957.5(MTHFR):c.1320G>A (p.Ser440=) rs367585605 0.00004
NM_001286535.2(RAD9B):c.28A>G (p.Ser10Gly) rs372056091 0.00003
NM_005957.5(MTHFR):c.137G>A (p.Arg46Gln) rs776483190 0.00003
NM_002454.3(MTRR):c.1252C>T (p.Arg418Ter) rs777997657 0.00002
NM_002454.3(MTRR):c.166G>A (p.Val56Met) rs761061866 0.00002
NM_005957.5(MTHFR):c.470G>A (p.Arg157Gln) rs121434295 0.00002
NM_002454.3(MTRR):c.1780A>T (p.Arg594Ter) rs1293600145 0.00001
NM_002454.3(MTRR):c.401+1G>A rs1400065323 0.00001
NM_002454.3(MTRR):c.763C>T (p.Gln255Ter) rs1353165398 0.00001
NM_005957.5(MTHFR):c.1069C>T (p.Arg357Cys) rs779993607 0.00001
NM_005957.5(MTHFR):c.1316T>C (p.Leu439Pro) rs545086633 0.00001
NM_005957.5(MTHFR):c.1969T>C (p.Ter657Arg) rs768434408 0.00001
NM_005957.5(MTHFR):c.202C>G (p.Arg68Gly) rs763539350 0.00001
NM_005957.5(MTHFR):c.416C>T (p.Thr139Met) rs1057519360 0.00001
NM_005957.5(MTHFR):c.548G>A (p.Arg183Gln) rs574132670 0.00001
NM_005957.5(MTHFR):c.968T>C (p.Leu323Pro) rs121434297 0.00001
NC_000012.11:g.110950633C>G
NM_001286535.2(RAD9B):c.1060A>G (p.Ser354Gly) rs747100389
NM_001286535.2(RAD9B):c.336A>G (p.Ile112Met) rs1593037878
NM_001286535.2(RAD9B):c.645T>A (p.Phe215Leu) rs1593083585
NM_001286535.2(RAD9B):c.661G>A (p.Gly221Arg) rs763079713
NM_002454.3(MTRR):c.-25-1G>A
NM_002454.3(MTRR):c.1057+1G>A
NM_002454.3(MTRR):c.1072del (p.Gln358fs)
NM_002454.3(MTRR):c.1123G>T (p.Glu375Ter) rs772547714
NM_002454.3(MTRR):c.1129C>T (p.Arg377Ter)
NM_002454.3(MTRR):c.1146+1G>A
NM_002454.3(MTRR):c.118G>T (p.Glu40Ter)
NM_002454.3(MTRR):c.1241del (p.Ser414fs)
NM_002454.3(MTRR):c.129+2T>G
NM_002454.3(MTRR):c.130-2A>G
NM_002454.3(MTRR):c.1373C>G (p.Ser458Ter)
NM_002454.3(MTRR):c.1418_1419del (p.Val473fs)
NM_002454.3(MTRR):c.1459G>A (p.Gly487Arg) rs137853061
NM_002454.3(MTRR):c.1475G>A (p.Trp492Ter)
NM_002454.3(MTRR):c.1496C>G (p.Ser499Ter)
NM_002454.3(MTRR):c.1508dup (p.Asn504fs)
NM_002454.3(MTRR):c.1599_1606del (p.Asp534fs)
NM_002454.3(MTRR):c.1669C>T (p.Gln557Ter)
NM_002454.3(MTRR):c.1672dup (p.His558fs)
NM_002454.3(MTRR):c.1676+2T>C
NM_002454.3(MTRR):c.1677-1G>C
NM_002454.3(MTRR):c.1677-2A>G
NM_002454.3(MTRR):c.1805_1806delinsAAGATC (p.Leu602Ter)
NM_002454.3(MTRR):c.1952+1G>A
NM_002454.3(MTRR):c.245C>T (p.Pro82Leu)
NM_002454.3(MTRR):c.270del (p.Tyr91fs) rs1579619636
NM_002454.3(MTRR):c.276del (p.Leu93fs)
NM_002454.3(MTRR):c.324del (p.Lys109fs) rs1189298981
NM_002454.3(MTRR):c.324dup (p.Lys109fs)
NM_002454.3(MTRR):c.358del (p.Ala120fs)
NM_002454.3(MTRR):c.372T>G (p.Tyr124Ter)
NM_002454.3(MTRR):c.378_384del (p.Gly127fs)
NM_002454.3(MTRR):c.402-1G>T rs1734858651
NM_002454.3(MTRR):c.440G>A (p.Trp147Ter)
NM_002454.3(MTRR):c.524C>A (p.Ser175Ter)
NM_002454.3(MTRR):c.568C>T (p.Gln190Ter)
NM_002454.3(MTRR):c.574G>T (p.Glu192Ter)
NM_002454.3(MTRR):c.596C>G (p.Ser199Ter)
NM_002454.3(MTRR):c.701dup (p.Leu235fs)
NM_002454.3(MTRR):c.740del (p.Pro247fs) rs752858024
NM_002454.3(MTRR):c.741del (p.Glu248fs) rs1734931275
NM_002454.3(MTRR):c.835del (p.Ser279fs)
NM_002454.3(MTRR):c.916dup (p.Ser306fs)
NM_005957.5(MTHFR):c.1003C>T (p.Arg335Cys)
NM_005957.5(MTHFR):c.1011dup (p.Met338fs)
NM_005957.5(MTHFR):c.1070G>A (p.Arg357His) rs977038830
NM_005957.5(MTHFR):c.112del (p.Asp38fs)
NM_005957.5(MTHFR):c.1151_1152delinsG (p.Phe384fs)
NM_005957.5(MTHFR):c.1166+1G>T
NM_005957.5(MTHFR):c.1166+5G>C rs1483632178
NM_005957.5(MTHFR):c.1246G>T (p.Glu416Ter)
NM_005957.5(MTHFR):c.1262G>C (p.Trp421Ser) rs200137991
NM_005957.5(MTHFR):c.1279del (p.Ser427fs)
NM_005957.5(MTHFR):c.1304T>C (p.Phe435Ser)
NM_005957.5(MTHFR):c.1347+2T>C
NM_005957.5(MTHFR):c.1348-1G>C
NM_005957.5(MTHFR):c.1429C>T (p.Gln477Ter)
NM_005957.5(MTHFR):c.1488del (p.Ile497fs)
NM_005957.5(MTHFR):c.1499G>A (p.Trp500Ter)
NM_005957.5(MTHFR):c.1500G>A (p.Trp500Ter) rs116620395
NM_005957.5(MTHFR):c.1502_1503del (p.Gly501fs)
NM_005957.5(MTHFR):c.1525C>T (p.Gln509Ter)
NM_005957.5(MTHFR):c.1530+1G>A
NM_005957.5(MTHFR):c.1530+1G>T
NM_005957.5(MTHFR):c.1541_1542del (p.Glu514fs) rs764338697
NM_005957.5(MTHFR):c.1547dup (p.Thr517fs)
NM_005957.5(MTHFR):c.1603C>T (p.Arg535Trp)
NM_005957.5(MTHFR):c.1604G>A (p.Arg535Gln)
NM_005957.5(MTHFR):c.1640dup (p.Asn547fs)
NM_005957.5(MTHFR):c.1663C>T (p.Gln555Ter)
NM_005957.5(MTHFR):c.1711C>T (p.Gln571Ter)
NM_005957.5(MTHFR):c.1750_1752+1del
NM_005957.5(MTHFR):c.176G>A (p.Trp59Ter)
NM_005957.5(MTHFR):c.1784G>A (p.Trp595Ter)
NM_005957.5(MTHFR):c.1786G>T (p.Gly596Ter)
NM_005957.5(MTHFR):c.1828del (p.Gln610fs)
NM_005957.5(MTHFR):c.198del (p.Pro67fs)
NM_005957.5(MTHFR):c.202C>T (p.Arg68Ter) rs763539350
NM_005957.5(MTHFR):c.20del (p.Gly7fs)
NM_005957.5(MTHFR):c.233C>G (p.Ser78Ter) rs776969786
NM_005957.5(MTHFR):c.273dup (p.Asp92fs) rs2100568604
NM_005957.5(MTHFR):c.440A>C (p.Gln147Pro) rs786204013
NM_005957.5(MTHFR):c.474A>T (p.Gly158=) rs199476142
NM_005957.5(MTHFR):c.476-2A>T
NM_005957.5(MTHFR):c.509del (p.Gly170fs)
NM_005957.5(MTHFR):c.523G>A (p.Ala175Thr) rs1182635980
NM_005957.5(MTHFR):c.532_540delinsT (p.Leu178fs)
NM_005957.5(MTHFR):c.584C>T (p.Ala195Val) rs760161369
NM_005957.5(MTHFR):c.586+1G>A
NM_005957.5(MTHFR):c.591C>A (p.Tyr197Ter)
NM_005957.5(MTHFR):c.655dup (p.Ser219fs)
NM_005957.5(MTHFR):c.83dup (p.Asp28fs)
NM_005957.5(MTHFR):c.867_868insG (p.Asn290fs) rs1644227005
NM_005957.5(MTHFR):c.991G>T (p.Glu331Ter)
NM_182706.5(SCRIB):c.1177C>T (p.Gln393Ter) rs2130127564

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