ClinVar Miner

List of variants reported as pathogenic for acro-renal-ocular syndrome by Invitae

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP
NC_000020.10:g.(?_50418798)_(50418967_?)del
NM_020436.5(SALL4):c.1232del (p.Val411fs) rs1568864697
NM_020436.5(SALL4):c.563del (p.Gly188fs) rs1555850961
NM_020436.5(SALL4):c.827dup (p.Ser276fs) rs1568865283

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