ClinVar Miner

List of variants studied for acro-renal-ocular syndrome by OMIM

Included ClinVar conditions (1):
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Total variants: 12
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NM_020436.5(SALL4):c.1054del (p.Ala352fs) rs1601170510
NM_020436.5(SALL4):c.1849C>T (p.Arg617Ter) rs74315427
NM_020436.5(SALL4):c.1904del (p.Phe635fs) rs1601168967
NM_020436.5(SALL4):c.1954C>T (p.Gln652Ter) rs74315424
NM_020436.5(SALL4):c.2425del (p.Ala809fs) rs1601168015
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.326del (p.Pro109fs) rs1601171949
NM_020436.5(SALL4):c.523A>T (p.Lys175Ter) rs74315426
NM_020436.5(SALL4):c.941dup (p.Leu315fs) rs1601170799

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