ClinVar Miner

List of variants reported as pathogenic for alobar holoprosencephaly by Invitae

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP
NM_005270.4(GLI2):c.192dup (p.Asp65Terfs) rs1388607733
NM_005270.4(GLI2):c.322delG (p.Ala108Leufs) rs1553471273
NM_007129.5(ZIC2):c.1076-2A>T rs1555332361
NM_007129.5(ZIC2):c.1377_1406dup (p.Ala461_Ala470dup) rs756225250

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