ClinVar Miner

List of variants in gene SALL4 studied for congenital limb malformation

Included ClinVar conditions (336):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 227
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HGVS dbSNP gnomAD frequency
NM_020436.5(SALL4):c.540T>C (p.Asn180=) rs6013281 0.99661
NM_020436.5(SALL4):c.1860A>G (p.Thr620=) rs6021437 0.31314
NM_020436.5(SALL4):c.1056G>A (p.Ala352=) rs13038893 0.29998
NM_020436.5(SALL4):c.1520T>G (p.Leu507Arg) rs6126344 0.29053
NM_020436.5(SALL4):c.2640G>C (p.Ser880=) rs17802735 0.09099
NM_020436.5(SALL4):c.2392A>C (p.Ile798Leu) rs6091375 0.08032
NM_020436.5(SALL4):c.2037C>T (p.Thr679=) rs13043248 0.07305
NM_020436.5(SALL4):c.2182G>C (p.Ala728Pro) rs61737142 0.02370
NM_020436.5(SALL4):c.645C>G (p.Leu215=) rs61737139 0.02226
NM_020436.5(SALL4):c.2130G>A (p.Thr710=) rs61737143 0.01764
NM_020436.5(SALL4):c.408T>C (p.Asn136=) rs76870996 0.01190
NM_020436.5(SALL4):c.2215G>T (p.Ala739Ser) rs41274696 0.00290
NM_020436.5(SALL4):c.2290T>C (p.Ser764Pro) rs150549656 0.00245
NM_020436.5(SALL4):c.2483C>T (p.Thr828Met) rs147158259 0.00206
NM_020436.5(SALL4):c.2038G>A (p.Gly680Ser) rs139022152 0.00200
NM_020436.5(SALL4):c.2376T>C (p.Asn792=) rs143601538 0.00146
NM_020436.5(SALL4):c.529G>A (p.Ala177Thr) rs145275500 0.00146
NM_020436.5(SALL4):c.1557C>T (p.Pro519=) rs75554760 0.00124
NM_020436.5(SALL4):c.1950C>T (p.Gly650=) rs149008635 0.00121
NM_020436.5(SALL4):c.1353C>T (p.Ala451=) rs140110863 0.00120
NM_020436.5(SALL4):c.2166A>G (p.Leu722=) rs141708963 0.00110
NM_020436.5(SALL4):c.1287T>G (p.Phe429Leu) rs143818932 0.00106
NM_020436.5(SALL4):c.1497G>T (p.Thr499=) rs148435082 0.00096
NM_020436.5(SALL4):c.349G>A (p.Gly117Arg) rs77538589 0.00073
NM_020436.5(SALL4):c.2041G>A (p.Ala681Thr) rs147385529 0.00056
NM_020436.5(SALL4):c.541G>A (p.Val181Met) rs139382539 0.00052
NM_020436.5(SALL4):c.2218C>G (p.Pro740Ala) rs149359253 0.00044
NM_020436.5(SALL4):c.2268C>T (p.Ser756=) rs145078336 0.00044
NM_020436.5(SALL4):c.2493A>G (p.Arg831=) rs79909922 0.00043
NM_020436.5(SALL4):c.2649C>T (p.Ser883=) rs772770482 0.00043
NM_020436.5(SALL4):c.2162C>T (p.Thr721Met) rs147195029 0.00041
NM_020436.5(SALL4):c.24A>G (p.Lys8=) rs149430070 0.00039
NM_020436.5(SALL4):c.2835C>T (p.Asp945=) rs143702441 0.00033
NM_020436.5(SALL4):c.1391C>T (p.Pro464Leu) rs139485493 0.00031
NM_020436.5(SALL4):c.1630C>T (p.Pro544Ser) rs150402866 0.00031
NM_020436.5(SALL4):c.3103G>A (p.Gly1035Ser) rs76648342 0.00030
NM_020436.5(SALL4):c.702G>A (p.Gln234=) rs146143890 0.00028
NM_020436.5(SALL4):c.1358A>G (p.Asn453Ser) rs146644204 0.00026
NM_020436.5(SALL4):c.2664C>T (p.His888=) rs11698418 0.00024
NM_020436.5(SALL4):c.1113C>G (p.Val371=) rs77810153 0.00023
NM_020436.5(SALL4):c.2260G>A (p.Val754Met) rs199607966 0.00023
NM_020436.5(SALL4):c.447G>A (p.Ala149=) rs147838161 0.00021
NM_020436.5(SALL4):c.3096T>C (p.Ala1032=) rs370319434 0.00018
NM_020436.5(SALL4):c.1020C>T (p.Gly340=) rs142790611 0.00011
NM_020436.5(SALL4):c.1871C>T (p.Thr624Met) rs146604877 0.00011
NM_020436.5(SALL4):c.950C>T (p.Pro317Leu) rs149863527 0.00008
NM_020436.5(SALL4):c.696C>T (p.Thr232=) rs376488018 0.00007
NM_020436.5(SALL4):c.2028C>T (p.Asn676=) rs755057820 0.00006
NM_020436.5(SALL4):c.2036C>G (p.Thr679Ser) rs549741547 0.00006
NM_020436.5(SALL4):c.262C>T (p.Leu88=) rs755362179 0.00006
NM_020436.5(SALL4):c.2913G>A (p.Gln971=) rs773001598 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.2385C>T (p.Ala795=) rs142446452 0.00004
NM_020436.5(SALL4):c.3080T>G (p.Val1027Gly) rs373111608 0.00004
NM_020436.5(SALL4):c.594G>A (p.Ala198=) rs377028033 0.00004
NM_020436.5(SALL4):c.216C>T (p.His72=) rs138604469 0.00003
NM_020436.5(SALL4):c.2447G>A (p.Arg816His) rs747560279 0.00003
NM_020436.5(SALL4):c.2462-12T>C rs770440198 0.00003
NM_020436.5(SALL4):c.3097A>G (p.Thr1033Ala) rs943513953 0.00003
NM_020436.5(SALL4):c.3153G>A (p.Ala1051=) rs142551587 0.00003
NM_020436.5(SALL4):c.42G>C (p.Ser14=) rs137903141 0.00003
NM_020436.5(SALL4):c.766A>G (p.Thr256Ala) rs139802240 0.00003
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.130+6dup rs750625183 0.00001
NM_020436.5(SALL4):c.1496C>T (p.Thr499Met) rs769115027 0.00001
NM_020436.5(SALL4):c.1567G>C (p.Gly523Arg) rs113920122 0.00001
NM_020436.5(SALL4):c.1880C>T (p.Ser627Leu) rs746614693 0.00001
NM_020436.5(SALL4):c.2833G>A (p.Asp945Asn) rs780276827 0.00001
NM_020436.5(SALL4):c.536C>G (p.Thr179Ser) rs201303046 0.00001
NM_020436.5(SALL4):c.609C>A (p.Ala203=) rs200416079 0.00001
NM_020436.5(SALL4):c.732C>T (p.Ser244=) rs567647391 0.00001
GRCh38/hg38 20q13.2(chr20:51783476-51785034)x1
NC_000020.10:g.(?_50400804)_(50401243_?)del
NC_000020.10:g.(?_50400804)_(50418947_?)del
NC_000020.11:g.(?_51802259)_(51802428_?)del
NM_020436.5(SALL4):c.1003C>T (p.Leu335Phe)
NM_020436.5(SALL4):c.1018G>A (p.Gly340Ser)
NM_020436.5(SALL4):c.1054del (p.Ala352fs) rs1601170510
NM_020436.5(SALL4):c.1068del (p.Lys357fs) rs2122964551
NM_020436.5(SALL4):c.1079A>C (p.Lys360Thr)
NM_020436.5(SALL4):c.1092G>A (p.Pro364=)
NM_020436.5(SALL4):c.1107G>A (p.Val369=)
NM_020436.5(SALL4):c.1125C>T (p.Asp375=)
NM_020436.5(SALL4):c.1130C>A (p.Ala377Glu)
NM_020436.5(SALL4):c.1204C>T (p.Arg402Cys)
NM_020436.5(SALL4):c.1209C>T (p.Ser403=)
NM_020436.5(SALL4):c.122G>A (p.Gly41Glu)
NM_020436.5(SALL4):c.1232del (p.Val411fs) rs1568864697
NM_020436.5(SALL4):c.1242_1245del (p.Cys415fs)
NM_020436.5(SALL4):c.1277A>G (p.Lys426Arg)
NM_020436.5(SALL4):c.1309G>C (p.Ala437Pro)
NM_020436.5(SALL4):c.131-2A>G rs2122967143
NM_020436.5(SALL4):c.131-2del rs1568866374
NM_020436.5(SALL4):c.1314C>T (p.Asn438=)
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>A (p.Ser491Ter)
NM_020436.5(SALL4):c.1472C>T (p.Ser491Leu)
NM_020436.5(SALL4):c.1476G>C (p.Gly492=) rs1428240079
NM_020436.5(SALL4):c.1504T>C (p.Ser502Pro)
NM_020436.5(SALL4):c.1512C>T (p.Pro504=)
NM_020436.5(SALL4):c.159C>T (p.Asp53=)
NM_020436.5(SALL4):c.1625del (p.Pro542fs)
NM_020436.5(SALL4):c.1633G>T (p.Gly545Trp)
NM_020436.5(SALL4):c.1657C>T (p.Gln553Ter) rs2122963183
NM_020436.5(SALL4):c.1660T>C (p.Leu554=)
NM_020436.5(SALL4):c.1671C>T (p.Asn557=)
NM_020436.5(SALL4):c.1679_1687del (p.Lys560_Thr562del)
NM_020436.5(SALL4):c.1698C>T (p.Asn566=)
NM_020436.5(SALL4):c.1717C>T (p.Arg573Ter) rs2078032400
NM_020436.5(SALL4):c.1718G>A (p.Arg573Gln)
NM_020436.5(SALL4):c.1756C>T (p.Arg586Cys)
NM_020436.5(SALL4):c.1770G>A (p.Gly590=)
NM_020436.5(SALL4):c.1779G>T (p.Pro593=) rs147254025
NM_020436.5(SALL4):c.1790A>G (p.Lys597Arg) rs2122962845
NM_020436.5(SALL4):c.1801C>T (p.Arg601Ter) rs2078031226
NM_020436.5(SALL4):c.1802G>C (p.Arg601Pro) rs1415936268
NM_020436.5(SALL4):c.1849C>T (p.Arg617Ter) rs74315427
NM_020436.5(SALL4):c.1851A>G (p.Arg617=)
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.2049C>G (p.Cys683Trp)
NM_020436.5(SALL4):c.2051ATG[2] (p.Asp686del) rs557068877
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.213G>A (p.Thr71=)
NM_020436.5(SALL4):c.2151G>A (p.Ser717=)
NM_020436.5(SALL4):c.2163G>A (p.Thr721=)
NM_020436.5(SALL4):c.2233C>T (p.Arg745Cys)
NM_020436.5(SALL4):c.2234G>A (p.Arg745His)
NM_020436.5(SALL4):c.2252del (p.Asn751fs)
NM_020436.5(SALL4):c.2253C>T (p.Asn751=)
NM_020436.5(SALL4):c.2257T>G (p.Ser753Ala)
NM_020436.5(SALL4):c.2279C>T (p.Thr760Ile) rs755503899
NM_020436.5(SALL4):c.2280dup (p.Asn761fs)
NM_020436.5(SALL4):c.2352C>A (p.Ser784=)
NM_020436.5(SALL4):c.2370G>A (p.Pro790=) rs570760124
NM_020436.5(SALL4):c.2373C>T (p.Ala791=)
NM_020436.5(SALL4):c.2410G>A (p.Asp804Asn) rs147768774
NM_020436.5(SALL4):c.2422A>G (p.Lys808Glu) rs2078023413
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.2462-13C>T rs778354482
NM_020436.5(SALL4):c.2496C>T (p.Ala832=)
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.2593C>T (p.Arg865Ter) rs74315425
NM_020436.5(SALL4):c.2607del (p.Gln869fs) rs1601166963
NM_020436.5(SALL4):c.2640G>A (p.Ser880=) rs17802735
NM_020436.5(SALL4):c.2663A>G (p.His888Arg) rs74315429
NM_020436.5(SALL4):c.2668C>T (p.Arg890Trp) rs2078012508
NM_020436.5(SALL4):c.2673T>C (p.Thr891=) rs779929335
NM_020436.5(SALL4):c.2704A>G (p.Ile902Val) rs2122959420
NM_020436.5(SALL4):c.2713C>T (p.Arg905Ter) rs74315428
NM_020436.5(SALL4):c.2742+16C>T
NM_020436.5(SALL4):c.2743-3T>C
NM_020436.5(SALL4):c.2743-5C>T
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.2872C>T (p.Leu958=)
NM_020436.5(SALL4):c.2944G>A (p.Val982Met)
NM_020436.5(SALL4):c.2977G>A (p.Gly993Arg) rs138891224
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.2982G>T (p.Gly994=)
NM_020436.5(SALL4):c.2984T>G (p.Val995Gly) rs1601162110
NM_020436.5(SALL4):c.3002C>T (p.Ser1001Phe)
NM_020436.5(SALL4):c.3030C>T (p.Asn1010=)
NM_020436.5(SALL4):c.3031G>A (p.Ala1011Thr)
NM_020436.5(SALL4):c.3058del (p.Gln1020fs)
NM_020436.5(SALL4):c.3062C>T (p.Ser1021Leu)
NM_020436.5(SALL4):c.3105C>T (p.Gly1035=)
NM_020436.5(SALL4):c.3152C>T (p.Ala1051Val)
NM_020436.5(SALL4):c.31C>T (p.His11Tyr)
NM_020436.5(SALL4):c.326del (p.Pro109fs) rs1601171949
NM_020436.5(SALL4):c.339A>G (p.Glu113=)
NM_020436.5(SALL4):c.33C>T (p.His11=)
NM_020436.5(SALL4):c.383del (p.Gly128fs) rs2122966358
NM_020436.5(SALL4):c.39C>T (p.Asn13=)
NM_020436.5(SALL4):c.410dup (p.Gly138fs) rs879255537
NM_020436.5(SALL4):c.411C>G (p.Gly137=) rs201560082
NM_020436.5(SALL4):c.412G>A (p.Gly138Ser)
NM_020436.5(SALL4):c.42GGA[4] (p.Glu16_Asp17insGlu)
NM_020436.5(SALL4):c.432G>A (p.Lys144=)
NM_020436.5(SALL4):c.474_475del (p.Glu158fs)
NM_020436.5(SALL4):c.477A>G (p.Thr159=)
NM_020436.5(SALL4):c.485C>T (p.Pro162Leu)
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.526G>A (p.Val176Met)
NM_020436.5(SALL4):c.531C>T (p.Ala177=)
NM_020436.5(SALL4):c.540_541inv (p.Val181Met)
NM_020436.5(SALL4):c.563del (p.Gly188fs) rs1555850961
NM_020436.5(SALL4):c.573G>A (p.Val191=)
NM_020436.5(SALL4):c.575C>A (p.Ala192Glu)
NM_020436.5(SALL4):c.588G>A (p.Arg196=)
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.659G>A (p.Cys220Tyr) rs774714248
NM_020436.5(SALL4):c.712C>T (p.Gln238Ter) rs2122965458
NM_020436.5(SALL4):c.762C>T (p.Ala254=) rs141546409
NM_020436.5(SALL4):c.770T>G (p.Leu257Arg)
NM_020436.5(SALL4):c.776C>T (p.Thr259Ile)
NM_020436.5(SALL4):c.789C>T (p.His263=)
NM_020436.5(SALL4):c.827dup (p.Ser276fs) rs1568865283
NM_020436.5(SALL4):c.853T>C (p.Ser285Pro)
NM_020436.5(SALL4):c.888C>T (p.His296=)
NM_020436.5(SALL4):c.889G>A (p.Ala297Thr)
NM_020436.5(SALL4):c.891C>T (p.Ala297=)
NM_020436.5(SALL4):c.941dup (p.Leu315fs) rs1601170799
NM_020436.5(SALL4):c.986G>A (p.Arg329His)
NM_020436.5(SALL4):c.9G>A (p.Arg3=)

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