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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HGVS dbSNP
GLI2, 1-BP DEL, NT2274
NM_005270.4(GLI2):c.1323G>A (p.Trp441Ter) rs121917707
NM_005270.4(GLI2):c.1435C>G (p.Arg479Gly) rs121917708
NM_005270.4(GLI2):c.1885G>A (p.Glu629Lys) rs387907277
NM_005270.4(GLI2):c.4558G>A (p.Asp1520Asn) rs114814747
NM_005270.4(GLI2):c.4663T>C (p.Ser1555Pro) rs144372453
NM_005270.4(GLI2):c.864_865del (p.His289Profs) rs398122882
NM_007129.3(ZIC2):c.1366_1368(15_45) rs749567106
NM_007129.4(ZIC2):c.1040_1046del (p.Glu348Serfs) rs397515365
NM_007129.4(ZIC2):c.1318dup (p.Leu440Profs) rs397515364
NM_007129.4(ZIC2):c.177_178ins56
ZIC2, 2-BP DEL, 180AC
ZIC2, 7-BP DEL, NT392

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