ClinVar Miner

List of variants in gene SALL4 reported as uncertain significance for IVIC syndrome

Included ClinVar conditions (2):
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Gene type:
ClinVar version:
Total variants: 127
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HGVS dbSNP gnomAD frequency
NM_020436.5(SALL4):c.950C>T (p.Pro317Leu) rs149863527 0.00008
NM_020436.5(SALL4):c.2036C>G (p.Thr679Ser) rs549741547 0.00006
NM_020436.5(SALL4):c.318C>T (p.Ser106=) rs371144604 0.00006
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.236C>T (p.Ala79Val) rs749395357 0.00003
NM_020436.5(SALL4):c.2447G>A (p.Arg816His) rs747560279 0.00003
NM_020436.5(SALL4):c.766A>G (p.Thr256Ala) rs139802240 0.00003
NM_020436.5(SALL4):c.1226C>G (p.Pro409Arg) rs1282224804 0.00002
NM_020436.5(SALL4):c.1005T>C (p.Leu335=) rs150350828 0.00001
NM_020436.5(SALL4):c.1184G>A (p.Ser395Asn) rs1010416849 0.00001
NM_020436.5(SALL4):c.1496C>T (p.Thr499Met) rs769115027 0.00001
NM_020436.5(SALL4):c.1738T>G (p.Ser580Ala) rs770161717 0.00001
NM_020436.5(SALL4):c.2833G>A (p.Asp945Asn) rs780276827 0.00001
NM_020436.5(SALL4):c.1009C>G (p.Gln337Glu)
NM_020436.5(SALL4):c.1048A>G (p.Thr350Ala)
NM_020436.5(SALL4):c.1055C>T (p.Ala352Val)
NM_020436.5(SALL4):c.1070A>G (p.Lys357Arg)
NM_020436.5(SALL4):c.1091C>T (p.Pro364Leu)
NM_020436.5(SALL4):c.1102G>T (p.Ala368Ser)
NM_020436.5(SALL4):c.1130C>A (p.Ala377Glu)
NM_020436.5(SALL4):c.1156T>A (p.Tyr386Asn)
NM_020436.5(SALL4):c.119C>T (p.Ala40Val)
NM_020436.5(SALL4):c.1204C>T (p.Arg402Cys)
NM_020436.5(SALL4):c.1205G>A (p.Arg402His)
NM_020436.5(SALL4):c.1284C>T (p.His428=)
NM_020436.5(SALL4):c.1297C>T (p.Pro433Ser)
NM_020436.5(SALL4):c.1367C>G (p.Pro456Arg)
NM_020436.5(SALL4):c.1403C>T (p.Pro468Leu)
NM_020436.5(SALL4):c.1422C>A (p.Ser474Arg)
NM_020436.5(SALL4):c.143A>G (p.Asn48Ser)
NM_020436.5(SALL4):c.1469C>A (p.Ser490Tyr)
NM_020436.5(SALL4):c.1472C>T (p.Ser491Leu)
NM_020436.5(SALL4):c.1583A>G (p.Tyr528Cys)
NM_020436.5(SALL4):c.1606T>C (p.Phe536Leu)
NM_020436.5(SALL4):c.160G>A (p.Glu54Lys)
NM_020436.5(SALL4):c.1619G>A (p.Gly540Glu)
NM_020436.5(SALL4):c.1640A>G (p.Glu547Gly)
NM_020436.5(SALL4):c.1673T>C (p.Ile558Thr)
NM_020436.5(SALL4):c.167C>T (p.Ala56Val)
NM_020436.5(SALL4):c.1681G>A (p.Ala561Thr)
NM_020436.5(SALL4):c.1697A>G (p.Asn566Ser)
NM_020436.5(SALL4):c.1699G>A (p.Glu567Lys)
NM_020436.5(SALL4):c.1706T>G (p.Leu569Arg)
NM_020436.5(SALL4):c.1735A>G (p.Ser579Gly)
NM_020436.5(SALL4):c.1756C>G (p.Arg586Gly)
NM_020436.5(SALL4):c.1756C>T (p.Arg586Cys)
NM_020436.5(SALL4):c.1766C>G (p.Thr589Ser)
NM_020436.5(SALL4):c.1798G>A (p.Gly600Ser)
NM_020436.5(SALL4):c.1837C>T (p.Leu613Phe)
NM_020436.5(SALL4):c.184A>G (p.Thr62Ala)
NM_020436.5(SALL4):c.1877A>G (p.His626Arg)
NM_020436.5(SALL4):c.1998G>A (p.Thr666=)
NM_020436.5(SALL4):c.199C>T (p.Arg67Cys)
NM_020436.5(SALL4):c.2005G>A (p.Glu669Lys)
NM_020436.5(SALL4):c.2029G>A (p.Gly677Ser)
NM_020436.5(SALL4):c.2065G>C (p.Glu689Gln)
NM_020436.5(SALL4):c.2072T>C (p.Ile691Thr)
NM_020436.5(SALL4):c.2165T>G (p.Leu722Arg)
NM_020436.5(SALL4):c.219C>A (p.Val73=)
NM_020436.5(SALL4):c.2230C>A (p.Gln744Lys)
NM_020436.5(SALL4):c.2234G>A (p.Arg745His)
NM_020436.5(SALL4):c.2283C>A (p.Asn761Lys)
NM_020436.5(SALL4):c.2284G>A (p.Asp762Asn)
NM_020436.5(SALL4):c.2305G>T (p.Asp769Tyr)
NM_020436.5(SALL4):c.2392A>G (p.Ile798Val)
NM_020436.5(SALL4):c.240G>A (p.Glu80=)
NM_020436.5(SALL4):c.2422A>G (p.Lys808Glu) rs2078023413
NM_020436.5(SALL4):c.2498C>T (p.Pro833Leu)
NM_020436.5(SALL4):c.2546C>T (p.Ser849Leu)
NM_020436.5(SALL4):c.2557C>T (p.Pro853Ser)
NM_020436.5(SALL4):c.2717C>G (p.Ala906Gly)
NM_020436.5(SALL4):c.2742+15G>T
NM_020436.5(SALL4):c.2743-3T>C
NM_020436.5(SALL4):c.2764G>A (p.Ala922Thr)
NM_020436.5(SALL4):c.2765C>T (p.Ala922Val)
NM_020436.5(SALL4):c.2774A>G (p.Asn925Ser)
NM_020436.5(SALL4):c.2809A>G (p.Asn937Asp)
NM_020436.5(SALL4):c.2891T>C (p.Val964Ala)
NM_020436.5(SALL4):c.2902G>A (p.Val968Met)
NM_020436.5(SALL4):c.2930A>G (p.Asn977Ser)
NM_020436.5(SALL4):c.296C>T (p.Pro99Leu)
NM_020436.5(SALL4):c.2977G>T (p.Gly993Trp) rs138891224
NM_020436.5(SALL4):c.3011C>T (p.Ala1004Val)
NM_020436.5(SALL4):c.301C>G (p.Leu101Val)
NM_020436.5(SALL4):c.3062C>T (p.Ser1021Leu)
NM_020436.5(SALL4):c.3098C>T (p.Thr1033Ile)
NM_020436.5(SALL4):c.3106G>A (p.Val1036Ile)
NM_020436.5(SALL4):c.3128A>T (p.His1043Leu)
NM_020436.5(SALL4):c.3158G>A (p.Ser1053Asn)
NM_020436.5(SALL4):c.319G>A (p.Glu107Lys)
NM_020436.5(SALL4):c.353C>T (p.Ala118Val)
NM_020436.5(SALL4):c.382G>T (p.Gly128Cys)
NM_020436.5(SALL4):c.38A>G (p.Asn13Ser)
NM_020436.5(SALL4):c.409G>A (p.Gly137Ser)
NM_020436.5(SALL4):c.412G>C (p.Gly138Arg)
NM_020436.5(SALL4):c.433_435del (p.Glu145del)
NM_020436.5(SALL4):c.439C>T (p.Pro147Ser)
NM_020436.5(SALL4):c.446C>T (p.Ala149Val)
NM_020436.5(SALL4):c.452C>T (p.Ser151Phe)
NM_020436.5(SALL4):c.491C>T (p.Thr164Ile)
NM_020436.5(SALL4):c.497A>G (p.Gln166Arg)
NM_020436.5(SALL4):c.4T>C (p.Ser2Pro)
NM_020436.5(SALL4):c.514G>C (p.Ala172Pro)
NM_020436.5(SALL4):c.560G>C (p.Arg187Pro)
NM_020436.5(SALL4):c.571G>T (p.Val191Leu)
NM_020436.5(SALL4):c.586C>T (p.Arg196Trp)
NM_020436.5(SALL4):c.587G>A (p.Arg196Gln)
NM_020436.5(SALL4):c.593C>T (p.Ala198Val)
NM_020436.5(SALL4):c.596A>G (p.Asp199Gly)
NM_020436.5(SALL4):c.623C>T (p.Ala208Val)
NM_020436.5(SALL4):c.626A>G (p.Asn209Ser)
NM_020436.5(SALL4):c.659G>A (p.Cys220Tyr) rs774714248
NM_020436.5(SALL4):c.67C>T (p.Pro23Ser)
NM_020436.5(SALL4):c.70_78del (p.Gln24_Gln26del)
NM_020436.5(SALL4):c.736G>A (p.Ala246Thr)
NM_020436.5(SALL4):c.748A>G (p.Ser250Gly)
NM_020436.5(SALL4):c.74A>C (p.Gln25Pro)
NM_020436.5(SALL4):c.750C>T (p.Ser250=)
NM_020436.5(SALL4):c.782G>A (p.Gly261Asp)
NM_020436.5(SALL4):c.884C>T (p.Pro295Leu)
NM_020436.5(SALL4):c.889G>A (p.Ala297Thr)
NM_020436.5(SALL4):c.90T>A (p.Phe30Leu)
NM_020436.5(SALL4):c.971C>T (p.Pro324Leu)
NM_020436.5(SALL4):c.986G>A (p.Arg329His)

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