ClinVar Miner

List of variants in gene VANGL1 reported as uncertain significance for caudal regression sequence

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_138959.3(VANGL1):c.*5267G>A rs75064936 0.00465
NM_138959.3(VANGL1):c.*3407dup rs752251154 0.00056
NM_138959.3(VANGL1):c.*5351G>A rs762453158 0.00014
NM_138959.3(VANGL1):c.*932dup rs886045124 0.00008
NM_138959.3(VANGL1):c.1045G>A (p.Glu349Lys) rs778860160 0.00003
NM_138959.3(VANGL1):c.*4731C>T rs144489409
NM_138959.3(VANGL1):c.*4840T>C rs886045144
NM_138959.3(VANGL1):c.*5441TC[3] rs886045147
NM_138959.3(VANGL1):c.*5639_*5640del rs886045148
NM_138959.3(VANGL1):c.*89TTC[2] rs746915495
NM_138959.3(VANGL1):c.-247CGG[6] rs886045116
NM_138959.3(VANGL1):c.-24C>T rs886045118

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