ClinVar Miner

List of variants in gene SALL4 reported as pathogenic for Duane-radial ray syndrome

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Gene type:
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Total variants: 33
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HGVS dbSNP gnomAD frequency
NC_000020.10:g.(?_50400804)_(50418947_?)del
NC_000020.11:g.(?_51802259)_(51802428_?)del
NM_020436.5(SALL4):c.1054del (p.Ala352fs) rs1601170510
NM_020436.5(SALL4):c.1068del (p.Lys357fs) rs2122964551
NM_020436.5(SALL4):c.1232del (p.Val411fs) rs1568864697
NM_020436.5(SALL4):c.1242_1245del (p.Cys415fs)
NM_020436.5(SALL4):c.1472C>A (p.Ser491Ter)
NM_020436.5(SALL4):c.1625del (p.Pro542fs)
NM_020436.5(SALL4):c.1657C>T (p.Gln553Ter) rs2122963183
NM_020436.5(SALL4):c.1717C>T (p.Arg573Ter) rs2078032400
NM_020436.5(SALL4):c.1801C>T (p.Arg601Ter) rs2078031226
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.1959dup (p.Pro654fs) rs2122962507
NM_020436.5(SALL4):c.1994_1995del (p.Phe665fs)
NM_020436.5(SALL4):c.2252del (p.Asn751fs)
NM_020436.5(SALL4):c.2280dup (p.Asn761fs)
NM_020436.5(SALL4):c.2424dup (p.Ala809fs)
NM_020436.5(SALL4):c.2425del (p.Ala809fs) rs1601168015
NM_020436.5(SALL4):c.2456dup (p.Met819fs)
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.410dup (p.Gly138fs) rs879255537
NM_020436.5(SALL4):c.474_475del (p.Glu158fs)
NM_020436.5(SALL4):c.516_522del (p.Gly174fs) rs2078047390
NM_020436.5(SALL4):c.523A>T (p.Lys175Ter) rs74315426
NM_020436.5(SALL4):c.563del (p.Gly188fs) rs1555850961
NM_020436.5(SALL4):c.712C>T (p.Gln238Ter) rs2122965458
NM_020436.5(SALL4):c.827dup (p.Ser276fs) rs1568865283
NM_020436.5(SALL4):c.941dup (p.Leu315fs) rs1601170799

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