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
NM_003181.3(TBXT):c.1034+79C>T rs3127334
NM_014246.3(CELSR1):c.5050_5051TG[3] (p.Glu1685fs) rs786201015
NM_014246.3(CELSR1):c.5719_5720TG[2] (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
NM_025129.5(FUZ):c.1211G>A (p.Arg404Gln) rs137955120
NM_138959.3(VANGL1):c.542G>A (p.Arg181Gln) rs761123443
NM_138959.3(VANGL1):c.821G>A (p.Arg274Gln) rs121918219
NM_138959.3(VANGL1):c.983T>C (p.Met328Thr) rs121918220

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