ClinVar Miner

List of variants in gene SETBP1 reported by CeGaT Center for Human Genetics Tuebingen

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Gene type:
ClinVar version:
Total variants: 76
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HGVS dbSNP gnomAD frequency
NM_015559.3(SETBP1):c.4129G>C (p.Val1377Leu) rs77518617 0.00922
NM_015559.3(SETBP1):c.3618T>C (p.His1206=) rs34882016 0.00689
NM_015559.3(SETBP1):c.-248G>T rs563748893 0.00683
NM_015559.3(SETBP1):c.1491G>A (p.Pro497=) rs113053616 0.00634
NM_015559.3(SETBP1):c.1483T>A (p.Ser495Thr) rs138515058 0.00184
NM_015559.3(SETBP1):c.3299A>G (p.His1100Arg) rs149162154 0.00107
NM_015559.3(SETBP1):c.-164C>G rs145284354 0.00083
NM_015559.3(SETBP1):c.4234C>A (p.Arg1412=) rs145996171 0.00073
NM_015559.3(SETBP1):c.4554G>A (p.Glu1518=) rs574196735 0.00066
NM_015559.3(SETBP1):c.3962G>A (p.Arg1321His) rs149638556 0.00045
NM_015559.3(SETBP1):c.1581T>G (p.Ala527=) rs150136756 0.00036
NM_015559.3(SETBP1):c.2934C>T (p.His978=) rs145566816 0.00029
NM_015559.3(SETBP1):c.3576C>T (p.Ser1192=) rs201826395 0.00023
NM_015559.3(SETBP1):c.3883G>A (p.Val1295Met) rs563768215 0.00020
NM_015559.3(SETBP1):c.969G>A (p.Lys323=) rs138913968 0.00020
NM_015559.3(SETBP1):c.2310G>A (p.Ala770=) rs373845529 0.00019
NM_015559.3(SETBP1):c.46G>A (p.Glu16Lys) rs587784381 0.00016
NM_015559.3(SETBP1):c.768C>T (p.Pro256=) rs141858699 0.00016
NM_015559.3(SETBP1):c.3956T>C (p.Met1319Thr) rs372615623 0.00011
NM_015559.3(SETBP1):c.2267C>T (p.Pro756Leu) rs200368452 0.00009
NM_015559.3(SETBP1):c.3562G>A (p.Glu1188Lys) rs763274923 0.00007
NM_015559.3(SETBP1):c.3615G>A (p.Lys1205=) rs150509004 0.00006
NM_015559.3(SETBP1):c.3731A>G (p.Gln1244Arg) rs201474295 0.00006
NM_015559.3(SETBP1):c.4588C>T (p.Leu1530=) rs1277740516 0.00004
NM_015559.3(SETBP1):c.1037C>T (p.Thr346Ile) rs557430935 0.00003
NM_015559.3(SETBP1):c.1388G>A (p.Arg463His) rs781159539 0.00003
NM_015559.3(SETBP1):c.584C>T (p.Thr195Met) rs755852977 0.00003
NM_015559.3(SETBP1):c.1965C>T (p.Leu655=) rs372765743 0.00002
NM_015559.3(SETBP1):c.2601C>T (p.Ser867=) rs376371660 0.00002
NM_015559.3(SETBP1):c.3055C>T (p.Arg1019Cys) rs767260608 0.00002
NM_015559.3(SETBP1):c.3861G>A (p.Ser1287=) rs749024227 0.00002
NM_015559.3(SETBP1):c.110C>T (p.Pro37Leu) rs747388683 0.00001
NM_015559.3(SETBP1):c.144C>G (p.Ile48Met) rs371516078 0.00001
NM_015559.3(SETBP1):c.204T>C (p.Asp68=) rs747370385 0.00001
NM_015559.3(SETBP1):c.3367A>C (p.Met1123Leu) rs766776747 0.00001
NM_015559.3(SETBP1):c.3427T>C (p.Ser1143Pro) rs762890510 0.00001
NM_015559.3(SETBP1):c.3818C>T (p.Thr1273Met) rs958733748 0.00001
NM_015559.3(SETBP1):c.4001-7T>A rs767918557 0.00001
NM_015559.3(SETBP1):c.4209G>A (p.Glu1403=) rs565949588 0.00001
NM_015559.3(SETBP1):c.4465C>T (p.Pro1489Ser) rs528411087 0.00001
NM_015559.3(SETBP1):c.756C>T (p.Pro252=) rs762370146 0.00001
NM_015559.3(SETBP1):c.990G>A (p.Thr330=) rs979688368 0.00001
NM_015559.3(SETBP1):c.-241dup rs886053786
NM_015559.3(SETBP1):c.1021G>T (p.Asp341Tyr) rs2071312042
NM_015559.3(SETBP1):c.1172G>A (p.Ser391Asn)
NM_015559.3(SETBP1):c.1183A>C (p.Asn395His) rs2071318761
NM_015559.3(SETBP1):c.1492C>G (p.Arg498Gly) rs548105094
NM_015559.3(SETBP1):c.1492C>T (p.Arg498Trp) rs548105094
NM_015559.3(SETBP1):c.1523C>T (p.Thr508Met) rs776966017
NM_015559.3(SETBP1):c.1889C>T (p.Ala630Val) rs540801169
NM_015559.3(SETBP1):c.1936A>G (p.Met646Val)
NM_015559.3(SETBP1):c.1950G>T (p.Lys650Asn) rs2145101918
NM_015559.3(SETBP1):c.2322A>G (p.Ala774=) rs2145104146
NM_015559.3(SETBP1):c.2722G>A (p.Asp908Asn)
NM_015559.3(SETBP1):c.274T>A (p.Ser92Thr)
NM_015559.3(SETBP1):c.2885C>T (p.Thr962Ile)
NM_015559.3(SETBP1):c.2903G>T (p.Arg968Ile)
NM_015559.3(SETBP1):c.2917A>T (p.Ser973Cys) rs2071375286
NM_015559.3(SETBP1):c.3274C>T (p.Pro1092Ser)
NM_015559.3(SETBP1):c.3300C>T (p.His1100=)
NM_015559.3(SETBP1):c.3377G>T (p.Gly1126Val)
NM_015559.3(SETBP1):c.3436C>T (p.Arg1146Trp) rs768536660
NM_015559.3(SETBP1):c.3528C>T (p.Gly1176=)
NM_015559.3(SETBP1):c.3652G>C (p.Gly1218Arg)
NM_015559.3(SETBP1):c.3715G>A (p.Ala1239Thr)
NM_015559.3(SETBP1):c.428G>A (p.Arg143His)
NM_015559.3(SETBP1):c.4575A>C (p.Pro1525=)
NM_015559.3(SETBP1):c.4580C>T (p.Pro1527Leu)
NM_015559.3(SETBP1):c.4590GCCGCCACC[1] (p.Pro1535_Pro1537del) rs777582770
NM_015559.3(SETBP1):c.4732G>C (p.Glu1578Gln) rs2073928489
NM_015559.3(SETBP1):c.4769G>C (p.Ser1590Thr)
NM_015559.3(SETBP1):c.540+7444C>T
NM_015559.3(SETBP1):c.540+7467A>G
NM_015559.3(SETBP1):c.773C>T (p.Ala258Val)
NM_015559.3(SETBP1):c.872C>T (p.Pro291Leu) rs1447661395
NM_015559.3(SETBP1):c.927C>A (p.Asn309Lys) rs199603131

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