ClinVar Miner

List of variants reported as uncertain significance for alobar holoprosencephaly by Invitae

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 20
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HGVS dbSNP
NM_001374353.1(GLI2):c.1121G>A (p.Arg374His) rs370220133
NM_001374353.1(GLI2):c.1178C>T (p.Thr393Met) rs571690193
NM_001374353.1(GLI2):c.1490A>C (p.Tyr497Ser) rs1553477146
NM_001374353.1(GLI2):c.1672T>C (p.Tyr558His)
NM_001374353.1(GLI2):c.2107C>T (p.Arg703Cys) rs773976966
NM_001374353.1(GLI2):c.2503G>A (p.Ala835Thr) rs751028726
NM_001374353.1(GLI2):c.2690G>A (p.Arg897Gln) rs886054813
NM_001374353.1(GLI2):c.3842G>A (p.Arg1281His) rs370407550
NM_001374353.1(GLI2):c.4147G>T (p.Gly1383Cys) rs143914758
NM_001374353.1(GLI2):c.4468G>A (p.Ala1490Thr)
NM_001374353.1(GLI2):c.451G>C (p.Ala151Pro) rs781771721
NM_001374353.1(GLI2):c.677G>A (p.Arg226His) rs766283583
NM_001374353.1(GLI2):c.713T>C (p.Leu238Pro) rs1558923316
NM_005270.5(GLI2):c.2911G>A (p.Asp971Asn)
NM_007129.5(ZIC2):c.1019G>C (p.Cys340Ser)
NM_007129.5(ZIC2):c.1058_1059delinsCT (p.His353Pro)
NM_007129.5(ZIC2):c.1096G>A (p.Glu366Lys)
NM_007129.5(ZIC2):c.1377_1382dup (p.Ala469_Ala470dup)
NM_007129.5(ZIC2):c.858C>G (p.His286Gln) rs1325393230
NM_007129.5(ZIC2):c.983C>T (p.Thr328Ile)

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