ClinVar Miner

List of variants in gene VANGL1 reported as likely 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: 15
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HGVS dbSNP gnomAD frequency
NM_138959.3(VANGL1):c.435T>C (p.Cys145=) rs34768472 0.00443
NM_138959.3(VANGL1):c.*2336A>G rs148944333 0.00362
NM_138959.3(VANGL1):c.*5466G>A rs192325588 0.00135
NM_138959.3(VANGL1):c.73G>A (p.Glu25Lys) rs61734296 0.00048
NM_138959.3(VANGL1):c.1172G>T (p.Arg391Met) rs140485834 0.00022
NM_138959.3(VANGL1):c.231G>A (p.Thr77=) rs186509771 0.00014
NM_138959.3(VANGL1):c.868T>C (p.Tyr290His) rs145309218 0.00014
NM_138959.3(VANGL1):c.*1545A>G rs117337677 0.00012
NM_138959.3(VANGL1):c.98C>T (p.Ser33Leu) rs78535164 0.00009
NM_138959.3(VANGL1):c.1299C>T (p.Asn433=) rs145137292 0.00006
NM_138959.3(VANGL1):c.812+9C>T rs370321176 0.00006
NM_138959.3(VANGL1):c.51G>A (p.Ser17=) rs575493003 0.00004
NM_138959.3(VANGL1):c.1023C>T (p.Asn341=) rs543050989 0.00003
NM_138959.3(VANGL1):c.114C>T (p.Asp38=) rs201840785 0.00001
NM_138959.3(VANGL1):c.572T>C (p.Val191Ala) rs781010619 0.00001

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