ClinVar Miner

List of variants in gene SALL4 reported as likely benign for bone development disease

Included ClinVar conditions (618):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 76
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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.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.2041G>A (p.Ala681Thr) rs147385529 0.00056
NM_020436.5(SALL4):c.2268C>T (p.Ser756=) rs145078336 0.00044
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.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.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.696C>T (p.Thr232=) rs376488018 0.00007
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.2385C>T (p.Ala795=) rs142446452 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.2462-12T>C rs770440198 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.130+6dup rs750625183 0.00001
NM_020436.5(SALL4):c.1567G>C (p.Gly523Arg) rs113920122 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
NM_020436.5(SALL4):c.1018G>A (p.Gly340Ser)
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.1209C>T (p.Ser403=)
NM_020436.5(SALL4):c.1314C>T (p.Asn438=)
NM_020436.5(SALL4):c.1476G>C (p.Gly492=) rs1428240079
NM_020436.5(SALL4):c.1504T>C (p.Ser502Pro)
NM_020436.5(SALL4):c.159C>T (p.Asp53=)
NM_020436.5(SALL4):c.1660T>C (p.Leu554=)
NM_020436.5(SALL4):c.1671C>T (p.Asn557=)
NM_020436.5(SALL4):c.1698C>T (p.Asn566=)
NM_020436.5(SALL4):c.1770G>A (p.Gly590=)
NM_020436.5(SALL4):c.1779G>T (p.Pro593=) rs147254025
NM_020436.5(SALL4):c.1851A>G (p.Arg617=)
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.2253C>T (p.Asn751=)
NM_020436.5(SALL4):c.2352C>A (p.Ser784=)
NM_020436.5(SALL4):c.2373C>T (p.Ala791=)
NM_020436.5(SALL4):c.2462-13C>T rs778354482
NM_020436.5(SALL4):c.2496C>T (p.Ala832=)
NM_020436.5(SALL4):c.2640G>A (p.Ser880=) rs17802735
NM_020436.5(SALL4):c.2673T>C (p.Thr891=) rs779929335
NM_020436.5(SALL4):c.2743-5C>T
NM_020436.5(SALL4):c.2872C>T (p.Leu958=)
NM_020436.5(SALL4):c.2977G>A (p.Gly993Arg) rs138891224
NM_020436.5(SALL4):c.2982G>T (p.Gly994=)
NM_020436.5(SALL4):c.3030C>T (p.Asn1010=)
NM_020436.5(SALL4):c.3062C>T (p.Ser1021Leu)
NM_020436.5(SALL4):c.33C>T (p.His11=)
NM_020436.5(SALL4):c.39C>T (p.Asn13=)
NM_020436.5(SALL4):c.411C>G (p.Gly137=) rs201560082
NM_020436.5(SALL4):c.432G>A (p.Lys144=)
NM_020436.5(SALL4):c.477A>G (p.Thr159=)
NM_020436.5(SALL4):c.531C>T (p.Ala177=)
NM_020436.5(SALL4):c.573G>A (p.Val191=)
NM_020436.5(SALL4):c.588G>A (p.Arg196=)
NM_020436.5(SALL4):c.762C>T (p.Ala254=) rs141546409
NM_020436.5(SALL4):c.789C>T (p.His263=)
NM_020436.5(SALL4):c.888C>T (p.His296=)
NM_020436.5(SALL4):c.891C>T (p.Ala297=)
NM_020436.5(SALL4):c.9G>A (p.Arg3=)

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