ClinVar Miner

List of variants reported as pathogenic for VACTERL/vater association

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP
GRCh37/hg19 17q12(chr17:34815551-36208392)x1
NM_003413.4(ZIC3):c.163_165GCC[3] (p.Ala54_Ala55dup) rs398122850
NM_003413.4(ZIC3):c.49G>T (p.Gly17Cys) rs147232392

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