ClinVar Miner

List of variants reported as likely pathogenic for alobar holoprosencephaly

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 15
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HGVS dbSNP gnomAD frequency
NM_001374353.1(GLI2):c.1108del (p.Ala370fs)
NM_001374353.1(GLI2):c.1183-45del
NM_001374353.1(GLI2):c.149-877_238del
NM_001374353.1(GLI2):c.162_163del (p.Leu55fs) rs778975466
NM_001374353.1(GLI2):c.1905+1G>A rs1558937172
NM_001374353.1(GLI2):c.3125_3126insTA (p.Leu1043fs)
NM_001374353.1(GLI2):c.4603A>T (p.Thr1535Ser) rs1057518657
NM_007129.5(ZIC2):c.1004del (p.Cys335fs)
NM_007129.5(ZIC2):c.1200_1205del (p.Lys400_Tyr402delinsAsn) rs2053256914
NM_007129.5(ZIC2):c.1213_1216delinsGCATGT (p.Pro405fs)
NM_007129.5(ZIC2):c.1229_1234del (p.Lys410_His411del) rs1566405714
NM_007129.5(ZIC2):c.1243del (p.His415fs) rs2152163697
NM_007129.5(ZIC2):c.1245T>G (p.His415Gln) rs794729641
NM_007129.5(ZIC2):c.1388_1389insAGCGGCGGCGGCAGCGGCGGCGGCAGCGGCGGC (p.Ala470_Val471insAlaAlaAlaAlaAlaAlaAlaAlaAlaAlaAla)
NM_007129.5(ZIC2):c.381_382del (p.Asp128fs) rs1456001894

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