ClinVar Miner

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

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Total variants: 71
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HGVS dbSNP gnomAD frequency
NM_020436.5(SALL4):c.3103G>A (p.Gly1035Ser) rs76648342 0.00030
NM_020436.5(SALL4):c.541G>A (p.Val181Met) rs139382539 0.00029
NM_020436.5(SALL4):c.2260G>A (p.Val754Met) rs199607966 0.00023
NM_020436.5(SALL4):c.950C>T (p.Pro317Leu) rs149863527 0.00008
NM_020436.5(SALL4):c.1037G>A (p.Ser346Asn) rs757430438 0.00004
NM_020436.5(SALL4):c.202C>T (p.Arg68Trp) rs202087308 0.00004
NM_020436.5(SALL4):c.203G>A (p.Arg68Gln) rs773046204 0.00004
NM_020436.5(SALL4):c.3080T>G (p.Val1027Gly) rs373111608 0.00004
NM_020436.5(SALL4):c.3097A>G (p.Thr1033Ala) rs943513953 0.00003
NM_020436.5(SALL4):c.1496C>T (p.Thr499Met) rs769115027 0.00001
NM_020436.5(SALL4):c.1880C>T (p.Ser627Leu) rs746614693 0.00001
NM_020436.5(SALL4):c.536C>G (p.Thr179Ser) rs201303046 0.00001
NM_020436.5(SALL4):c.1003C>T (p.Leu335Phe)
NM_020436.5(SALL4):c.1079A>C (p.Lys360Thr)
NM_020436.5(SALL4):c.1130C>A (p.Ala377Glu)
NM_020436.5(SALL4):c.1204C>T (p.Arg402Cys)
NM_020436.5(SALL4):c.122G>A (p.Gly41Glu)
NM_020436.5(SALL4):c.1277A>G (p.Lys426Arg)
NM_020436.5(SALL4):c.1309G>C (p.Ala437Pro)
NM_020436.5(SALL4):c.1330G>A (p.Glu444Lys)
NM_020436.5(SALL4):c.1358A>T (p.Asn453Ile)
NM_020436.5(SALL4):c.1424A>G (p.Lys475Arg) rs2078036143
NM_020436.5(SALL4):c.1472C>T (p.Ser491Leu)
NM_020436.5(SALL4):c.1633G>T (p.Gly545Trp)
NM_020436.5(SALL4):c.1679_1687del (p.Lys560_Thr562del)
NM_020436.5(SALL4):c.1718G>A (p.Arg573Gln)
NM_020436.5(SALL4):c.1756C>T (p.Arg586Cys)
NM_020436.5(SALL4):c.1802G>C (p.Arg601Pro) rs1415936268
NM_020436.5(SALL4):c.2049C>G (p.Cys683Trp)
NM_020436.5(SALL4):c.2065G>A (p.Glu689Lys)
NM_020436.5(SALL4):c.2074G>A (p.Asp692Asn)
NM_020436.5(SALL4):c.2081A>C (p.Glu694Ala)
NM_020436.5(SALL4):c.2114C>G (p.Ser705Cys)
NM_020436.5(SALL4):c.2233C>T (p.Arg745Cys)
NM_020436.5(SALL4):c.2234G>A (p.Arg745His)
NM_020436.5(SALL4):c.2257T>G (p.Ser753Ala)
NM_020436.5(SALL4):c.2370G>A (p.Pro790=) rs570760124
NM_020436.5(SALL4):c.2410G>A (p.Asp804Asn) rs147768774
NM_020436.5(SALL4):c.2501C>T (p.Pro834Leu)
NM_020436.5(SALL4):c.250A>G (p.Ile84Val) rs1601172072
NM_020436.5(SALL4):c.2590C>T (p.Arg864Cys) rs756470912
NM_020436.5(SALL4):c.2668C>T (p.Arg890Trp) rs2078012508
NM_020436.5(SALL4):c.2704A>G (p.Ile902Val) rs2122959420
NM_020436.5(SALL4):c.2743-3T>C
NM_020436.5(SALL4):c.2765C>T (p.Ala922Val)
NM_020436.5(SALL4):c.2782C>T (p.Arg928Cys)
NM_020436.5(SALL4):c.2816T>G (p.Met939Arg) rs770912668
NM_020436.5(SALL4):c.2944G>A (p.Val982Met)
NM_020436.5(SALL4):c.2977G>C (p.Gly993Arg) rs138891224
NM_020436.5(SALL4):c.2977G>T (p.Gly993Trp) rs138891224
NM_020436.5(SALL4):c.2980G>A (p.Gly994Arg)
NM_020436.5(SALL4):c.2984T>G (p.Val995Gly) rs1601162110
NM_020436.5(SALL4):c.3002C>T (p.Ser1001Phe)
NM_020436.5(SALL4):c.3031G>A (p.Ala1011Thr)
NM_020436.5(SALL4):c.3152C>T (p.Ala1051Val)
NM_020436.5(SALL4):c.31C>T (p.His11Tyr)
NM_020436.5(SALL4):c.412G>A (p.Gly138Ser)
NM_020436.5(SALL4):c.42GGA[4] (p.Glu16_Asp17insGlu)
NM_020436.5(SALL4):c.485C>T (p.Pro162Leu)
NM_020436.5(SALL4):c.526G>A (p.Val176Met)
NM_020436.5(SALL4):c.540_541inv (p.Val181Met)
NM_020436.5(SALL4):c.575C>A (p.Ala192Glu)
NM_020436.5(SALL4):c.593C>T (p.Ala198Val)
NM_020436.5(SALL4):c.596A>G (p.Asp199Gly)
NM_020436.5(SALL4):c.599C>T (p.Ala200Val)
NM_020436.5(SALL4):c.646G>A (p.Glu216Lys)
NM_020436.5(SALL4):c.770T>G (p.Leu257Arg)
NM_020436.5(SALL4):c.776C>T (p.Thr259Ile)
NM_020436.5(SALL4):c.853T>C (p.Ser285Pro)
NM_020436.5(SALL4):c.889G>A (p.Ala297Thr)
NM_020436.5(SALL4):c.986G>A (p.Arg329His)

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