ClinVar Miner

List of variants reported as likely pathogenic for VACTERL/vater association

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
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HGVS dbSNP gnomAD frequency
GRCh37/hg19 10q11.21(chr10:43796180-44037408)x3
GRCh37/hg19 16q23.3(chr16:83414018-83518410)x1
GRCh37/hg19 22q11.21(chr22:18915347-21463730)x1
GRCh37/hg19 5q23.1(chr5:118890915-119082631)x1
NM_001451.3(FOXF1):c.658G>T (p.Gly220Cys) rs752504125
NM_003413.4(ZIC3):c.1103del (p.Arg368fs) rs2124185586

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