ClinVar Miner

List of variants reported as risk factor for Neural tube defects, susceptibility to

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Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_001366285.2(TBXT):c.1037+79C>T rs3127334 0.76538
NM_025129.5(FUZ):c.1211G>A (p.Arg404Gln) rs137955120 0.00009
NM_138959.3(VANGL1):c.542G>A (p.Arg181Gln) rs761123443 0.00006
NM_138959.3(VANGL1):c.821G>A (p.Arg274Gln) rs121918219 0.00004
NM_138959.3(VANGL1):c.983T>C (p.Met328Thr) rs121918220 0.00001
NM_001378328.1(CELSR1):c.5052_5053dup (p.Glu1685fs) rs786201015
NM_001378328.1(CELSR1):c.5723_5724del (p.Val1908fs) rs786201016
NM_020335.3(VANGL2):c.1057C>T (p.Arg353Cys) rs267607167
NM_020335.3(VANGL2):c.1310T>C (p.Phe437Ser) rs267607168
NM_025129.5(FUZ):c.1060G>T (p.Asp354Tyr) rs139365610
NM_025129.5(FUZ):c.115C>T (p.Pro39Ser) rs387907204

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