ClinVar Miner

List of variants in gene ASXL1 reported by PreventionGenetics, part of Exact Sciences

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Total variants: 61
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HGVS dbSNP gnomAD frequency
NM_015338.6(ASXL1):c.540C>T (p.Asn180=) rs74346706 0.00341
NM_015338.6(ASXL1):c.2957A>G (p.Asn986Ser) rs145132837 0.00172
NM_015338.6(ASXL1):c.1429G>C (p.Glu477Gln) rs141346625 0.00131
NM_015338.6(ASXL1):c.3029C>T (p.Thr1010Met) rs116112525 0.00127
NM_015338.6(ASXL1):c.2222A>T (p.Asp741Val) rs149971443 0.00117
NM_015338.6(ASXL1):c.3739C>T (p.Arg1247Cys) rs146747814 0.00113
NM_015338.6(ASXL1):c.4189G>A (p.Gly1397Ser) rs146464648 0.00113
NM_015338.6(ASXL1):c.4098C>T (p.Ser1366=) rs143041800 0.00078
NM_015338.6(ASXL1):c.2059T>C (p.Cys687Arg) rs140197482 0.00073
NM_015338.6(ASXL1):c.3935C>T (p.Ala1312Val) rs148144203 0.00073
NM_015338.6(ASXL1):c.1898A>G (p.His633Arg) rs201280462 0.00069
NM_015338.6(ASXL1):c.4470G>T (p.Leu1490Phe) rs140896392 0.00057
NM_015338.6(ASXL1):c.1923C>T (p.Ile641=) rs551524526 0.00042
NM_015338.6(ASXL1):c.4183C>G (p.Leu1395Val) rs150004862 0.00037
NM_015338.6(ASXL1):c.3933T>C (p.Ala1311=) rs143779557 0.00032
NM_015338.6(ASXL1):c.3351C>A (p.Pro1117=) rs373603259 0.00029
NM_015338.6(ASXL1):c.1633C>T (p.Arg545Cys) rs137920574 0.00028
NM_015338.6(ASXL1):c.1474G>C (p.Ala492Pro) rs145913172 0.00020
NM_015338.6(ASXL1):c.3148A>G (p.Met1050Val) rs370804022 0.00019
NM_015338.6(ASXL1):c.3379G>A (p.Asp1127Asn) rs201009558 0.00015
NM_015338.6(ASXL1):c.4494G>A (p.Thr1498=) rs138417690 0.00014
NM_015338.6(ASXL1):c.4139C>G (p.Ala1380Gly) rs139319958 0.00013
NM_015338.6(ASXL1):c.1162G>A (p.Val388Ile) rs145699348 0.00007
NM_015338.6(ASXL1):c.375A>G (p.Val125=) rs755203412 0.00007
NM_015338.6(ASXL1):c.4247A>G (p.Glu1416Gly) rs146759903 0.00007
NM_015338.6(ASXL1):c.2053G>A (p.Gly685Arg) rs369152088 0.00005
NM_015338.6(ASXL1):c.3573T>C (p.Ile1191=) rs755831609 0.00005
NM_015338.6(ASXL1):c.1200C>T (p.Ala400=) rs750058388 0.00004
NM_015338.6(ASXL1):c.891G>A (p.Thr297=) rs758987230 0.00004
NM_015338.6(ASXL1):c.4343A>G (p.Gln1448Arg) rs772452614 0.00003
NM_015338.6(ASXL1):c.1920C>T (p.Ala640=) rs532924267 0.00002
NM_015338.6(ASXL1):c.2064G>A (p.Thr688=) rs202104108 0.00002
NM_015338.6(ASXL1):c.2115G>A (p.Glu705=) rs767393033 0.00002
NM_015338.6(ASXL1):c.275G>A (p.Arg92His) rs745960978 0.00002
NM_015338.6(ASXL1):c.4179G>A (p.Leu1393=) rs201053008 0.00002
NM_015338.6(ASXL1):c.4207C>T (p.Pro1403Ser) rs148670852 0.00002
NM_015338.6(ASXL1):c.141-2A>G rs768868045 0.00001
NM_015338.6(ASXL1):c.4603G>A (p.Val1535Ile) rs886056603 0.00001
NM_015338.6(ASXL1):c.-21CCG[3] rs764597521
NM_015338.6(ASXL1):c.1009A>T (p.Ile337Leu) rs2515526278
NM_015338.6(ASXL1):c.1113G>A (p.Leu371=) rs1182540278
NM_015338.6(ASXL1):c.1465C>G (p.Arg489Gly) rs142172134
NM_015338.6(ASXL1):c.1671C>T (p.Thr557=) rs372630902
NM_015338.6(ASXL1):c.1934dup (p.Gly646fs) rs750318549
NM_015338.6(ASXL1):c.2110G>A (p.Gly704Arg) rs151317625
NM_015338.6(ASXL1):c.225T>G (p.Pro75=)
NM_015338.6(ASXL1):c.2278C>T (p.Gln760Ter) rs1167715259
NM_015338.6(ASXL1):c.2384C>T (p.Ser795Phe) rs746990403
NM_015338.6(ASXL1):c.2819delinsCCCC (p.Leu940delinsSerPro) rs2515571933
NM_015338.6(ASXL1):c.2870C>T (p.Thr957Ile)
NM_015338.6(ASXL1):c.2895AGG[1] (p.Gly967del) rs762939072
NM_015338.6(ASXL1):c.2979T>C (p.Ser993=) rs2145376048
NM_015338.6(ASXL1):c.3637_3640del (p.Leu1213fs) rs1555912648
NM_015338.6(ASXL1):c.3705C>G (p.Phe1235Leu)
NM_015338.6(ASXL1):c.3989C>G (p.Pro1330Arg) rs201002256
NM_015338.6(ASXL1):c.4274_4275del (p.Leu1425fs) rs1463049576
NM_015338.6(ASXL1):c.4426C>T (p.His1476Tyr) rs2145396080
NM_015338.6(ASXL1):c.4521G>A (p.Ala1507=) rs760605807
NM_015338.6(ASXL1):c.57+478G>T rs952135039
NM_015338.6(ASXL1):c.623G>A (p.Gly208Asp) rs778390869
NM_015338.6(ASXL1):c.836A>G (p.His279Arg) rs2515515807

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