ClinVar Miner

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

Included ClinVar conditions (1):
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Total variants: 18
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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.1849C>T (p.Arg617Ter) rs74315427
NM_020436.5(SALL4):c.1954C>T (p.Gln652Ter) rs74315424
NM_020436.5(SALL4):c.2593C>T (p.Arg865Ter) rs74315425
NM_020436.5(SALL4):c.2663A>G (p.His888Arg) rs74315429
NM_020436.5(SALL4):c.2713C>T (p.Arg905Ter) rs74315428
NM_020436.5(SALL4):c.410dup (p.Gly138fs) rs879255537
NM_020436.5(SALL4):c.496dup (p.Gln166fs) rs797044509
NM_020436.5(SALL4):c.523A>T (p.Lys175Ter) rs74315426
NM_020436.5(SALL4):c.563del (p.Gly188fs) rs1555850961
NM_020436.5(SALL4):c.827dup (p.Ser276fs) rs1568865283
SALL4, 1-BP DEL, 1053G
SALL4, 1-BP DEL, 1904T
SALL4, 1-BP DEL, 2425G
SALL4, 1-BP DEL, 326C
SALL4, 1-BP INS, 940C
SALL4, DEL

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