ClinVar Miner

List of variants in gene combination CASQ2, VANGL1 reported as benign for caudal regression-sirenomelia spectrum

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 13
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HGVS dbSNP gnomAD frequency
NM_138959.3(VANGL1):c.*4478C>T rs17034226 0.41876
NM_138959.3(VANGL1):c.*5751A>G rs10801933 0.41406
NM_138959.3(VANGL1):c.*5368G>A rs10494179 0.39762
NM_138959.3(VANGL1):c.*5995A>T rs4595366 0.39755
NM_138959.3(VANGL1):c.*5841A>T rs4548441 0.39752
NM_138959.3(VANGL1):c.*6026G>A rs6428677 0.24227
NM_138959.3(VANGL1):c.*6199A>T rs3811007 0.22923
NM_138959.3(VANGL1):c.*6212C>T rs3811006 0.16816
NM_138959.3(VANGL1):c.*4504C>T rs17034228 0.16812
NM_138959.3(VANGL1):c.*5266C>T rs17034230 0.16811
NM_138959.3(VANGL1):c.*6721A>G rs17034249 0.10611
NM_138959.3(VANGL1):c.*6321T>G rs77318780 0.06169
NM_138959.3(VANGL1):c.*5633T>G rs4348723

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