ClinVar Miner

List of variants studied for spina bifida by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (7):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 39
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HGVS dbSNP gnomAD frequency
NM_002454.3(MTRR):c.1155G>A (p.Leu385=) rs2287779 0.04224
NM_025129.5(FUZ):c.405C>T (p.Ile135=) rs35499921 0.00594
NM_000254.3(MTR):c.3474G>A (p.Leu1158=) rs142113735 0.00510
NM_000254.3(MTR):c.250-7G>A rs184332230 0.00277
NM_002454.3(MTRR):c.1326C>T (p.Leu442=) rs144781389 0.00274
NM_002454.3(MTRR):c.739C>T (p.Pro247Ser) rs114053717 0.00190
NM_005957.5(MTHFR):c.1959G>A (p.Thr653=) rs45572531 0.00187
NM_005957.5(MTHFR):c.1409A>T (p.Glu470Val) rs142617551 0.00183
NM_005957.5(MTHFR):c.1555C>T (p.Arg519Cys) rs45496998 0.00176
NM_005957.5(MTHFR):c.1556G>T (p.Arg519Leu) rs45449298 0.00118
NM_005956.4(MTHFD1):c.983C>T (p.Pro328Leu) rs147367593 0.00103
NM_000254.3(MTR):c.1862A>G (p.Asp621Gly) rs61736440 0.00081
NM_000254.3(MTR):c.3712-7T>G rs151081130 0.00036
NM_005957.5(MTHFR):c.203G>A (p.Arg68Gln) rs2066472 0.00031
NM_005957.5(MTHFR):c.673A>G (p.Ile225Val) rs200100285 0.00028
NM_002454.3(MTRR):c.505G>A (p.Val169Met) rs147742177 0.00021
NM_005956.4(MTHFD1):c.1390A>G (p.Ile464Val) rs139264994 0.00019
NM_005957.5(MTHFR):c.1720G>A (p.Val574Ile) rs202153689 0.00015
NM_002454.3(MTRR):c.973C>A (p.Gln325Lys) rs138098668 0.00012
NM_005957.5(MTHFR):c.459C>G (p.Ile153Met) rs767890671 0.00011
NM_002454.3(MTRR):c.1573C>T (p.Arg525Ter) rs147277149 0.00007
NM_002454.3(MTRR):c.1537G>A (p.Gly513Arg) rs150411351 0.00006
NM_005956.4(MTHFD1):c.1913C>T (p.Pro638Leu) rs149492308 0.00006
NM_000254.3(MTR):c.1542A>T (p.Arg514Ser) rs200479834 0.00004
NM_005957.5(MTHFR):c.1320G>A (p.Ser440=) rs367585605 0.00004
NM_005957.5(MTHFR):c.155G>A (p.Arg52Gln) rs754980119 0.00004
NM_005957.5(MTHFR):c.151C>T (p.Arg51Trp) rs764131110 0.00003
NM_002454.3(MTRR):c.166G>A (p.Val56Met) rs761061866 0.00002
NM_002454.3(MTRR):c.766G>T (p.Glu256Ter) rs375908206 0.00002
NM_005957.5(MTHFR):c.470G>A (p.Arg157Gln) rs121434295 0.00002
NM_002454.3(MTRR):c.340C>T (p.Arg114Ter) rs754990692 0.00001
NM_002454.3(MTRR):c.763C>T (p.Gln255Ter) rs1353165398 0.00001
NM_005957.5(MTHFR):c.1371T>C (p.Asp457=) rs1428673436 0.00001
NM_005957.5(MTHFR):c.1632+2T>G rs749765738 0.00001
NM_005957.5(MTHFR):c.416C>T (p.Thr139Met) rs1057519360 0.00001
NM_000254.3(MTR):c.1348_1349inv (p.Ser450Asp)
NM_000254.3(MTR):c.2640_2642del (p.Ile881del) rs797044443
NM_005957.5(MTHFR):c.1064C>T (p.Pro355Leu) rs794727869
NM_005957.5(MTHFR):c.1541_1542del (p.Glu514fs) rs764338697

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