ClinVar Miner

List of variants studied for alobar holoprosencephaly by OMIM

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 13
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GLI2, 1-BP DEL, NT2274
NM_001374353.1(GLI2):c.1272G>A (p.Trp424Ter) rs121917707
NM_001374353.1(GLI2):c.1384C>G (p.Arg462Gly) rs121917708
NM_001374353.1(GLI2):c.1834G>A (p.Glu612Lys) rs387907277
NM_001374353.1(GLI2):c.4507G>A (p.Asp1503Asn) rs114814747
NM_001374353.1(GLI2):c.4612T>C (p.Ser1538Pro) rs144372453
NM_001374353.1(GLI2):c.864_865del (p.His289fs) rs398122882
NM_007129.5(ZIC2):c.1042_1048del (p.Glu348fs) rs397515365
NM_007129.5(ZIC2):c.1318dup (p.Leu440fs) rs397515364
NM_007129.5(ZIC2):c.397_403del (p.Gly133fs) rs1594290658
ZIC2, 2-BP DEL, 180AC

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