ClinVar Miner

List of variants in gene ASH1L reported by CeGaT Center for Human Genetics Tuebingen

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 86
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_018489.3(ASH1L):c.6546G>A (p.Arg2182=) rs41264237 0.00317
NM_018489.3(ASH1L):c.5175G>A (p.Glu1725=) rs72993423 0.00205
NM_018489.3(ASH1L):c.7568G>A (p.Arg2523His) rs41264231 0.00166
NM_018489.3(ASH1L):c.3319A>G (p.Ile1107Val) rs140137038 0.00126
NM_018489.3(ASH1L):c.5349T>C (p.Ser1783=) rs147845232 0.00020
NM_018489.3(ASH1L):c.7976G>A (p.Arg2659His) rs201394353 0.00014
NM_018489.3(ASH1L):c.7598G>A (p.Arg2533His) rs138122556 0.00010
NM_018489.3(ASH1L):c.3783C>T (p.Ser1261=) rs138639058 0.00006
NM_018489.3(ASH1L):c.891A>G (p.Val297=) rs200853973 0.00004
NM_018489.3(ASH1L):c.1101G>A (p.Leu367=) rs41313892 0.00003
NM_018489.3(ASH1L):c.5092G>A (p.Gly1698Arg) rs765286358 0.00003
NM_018489.3(ASH1L):c.7190G>A (p.Arg2397Gln) rs1249415159 0.00003
NM_018489.3(ASH1L):c.8337T>C (p.Asp2779=) rs199835574 0.00003
NM_018489.3(ASH1L):c.2599A>G (p.Ile867Val) rs532225764 0.00001
NM_018489.3(ASH1L):c.2859G>A (p.Arg953=) rs763045546 0.00001
NM_018489.3(ASH1L):c.3862A>G (p.Ile1288Val) rs1280289463 0.00001
NM_018489.3(ASH1L):c.-3G>C
NM_018489.3(ASH1L):c.114G>C (p.Glu38Asp) rs1558188620
NM_018489.3(ASH1L):c.1279G>A (p.Glu427Lys)
NM_018489.3(ASH1L):c.1283C>T (p.Ala428Val)
NM_018489.3(ASH1L):c.129A>G (p.Thr43=)
NM_018489.3(ASH1L):c.142G>T (p.Asp48Tyr)
NM_018489.3(ASH1L):c.1559A>G (p.Glu520Gly)
NM_018489.3(ASH1L):c.1686_1691dup (p.Val564_Asn565insSerVal)
NM_018489.3(ASH1L):c.1722_1723inv (p.Ser575Thr)
NM_018489.3(ASH1L):c.1762A>G (p.Thr588Ala) rs769378000
NM_018489.3(ASH1L):c.1822A>G (p.Ser608Gly)
NM_018489.3(ASH1L):c.1823G>A (p.Ser608Asn)
NM_018489.3(ASH1L):c.1995T>G (p.Ile665Met)
NM_018489.3(ASH1L):c.2329C>T (p.Arg777Cys)
NM_018489.3(ASH1L):c.2377T>G (p.Leu793Val)
NM_018489.3(ASH1L):c.2578A>G (p.Lys860Glu) rs2148726226
NM_018489.3(ASH1L):c.2683_2684del (p.Arg895fs)
NM_018489.3(ASH1L):c.2724G>T (p.Leu908=)
NM_018489.3(ASH1L):c.2770_2783del (p.Ser924fs) rs2148725649
NM_018489.3(ASH1L):c.2808del (p.Phe936fs) rs1558149683
NM_018489.3(ASH1L):c.3004_3005del (p.Leu1002fs) rs1570938260
NM_018489.3(ASH1L):c.4071G>A (p.Arg1357=)
NM_018489.3(ASH1L):c.4130G>T (p.Gly1377Val)
NM_018489.3(ASH1L):c.4264C>T (p.Pro1422Ser) rs1665735919
NM_018489.3(ASH1L):c.4276T>A (p.Tyr1426Asn)
NM_018489.3(ASH1L):c.4279A>G (p.Met1427Val)
NM_018489.3(ASH1L):c.4310C>T (p.Ala1437Val)
NM_018489.3(ASH1L):c.437A>G (p.Tyr146Cys) rs546762132
NM_018489.3(ASH1L):c.4484C>T (p.Ser1495Phe)
NM_018489.3(ASH1L):c.4579C>G (p.Arg1527Gly)
NM_018489.3(ASH1L):c.4650A>G (p.Ile1550Met)
NM_018489.3(ASH1L):c.4651_4654del (p.Asn1551fs) rs1553264873
NM_018489.3(ASH1L):c.4656_4659del (p.Glu1553fs)
NM_018489.3(ASH1L):c.4720C>T (p.Pro1574Ser) rs1553264855
NM_018489.3(ASH1L):c.4793C>T (p.Ala1598Val)
NM_018489.3(ASH1L):c.4808A>G (p.His1603Arg) rs1282367462
NM_018489.3(ASH1L):c.4816C>A (p.Leu1606Ile) rs756795480
NM_018489.3(ASH1L):c.4843A>G (p.Arg1615Gly)
NM_018489.3(ASH1L):c.4870C>T (p.Arg1624Trp)
NM_018489.3(ASH1L):c.491G>A (p.Arg164His)
NM_018489.3(ASH1L):c.4959C>T (p.Asn1653=)
NM_018489.3(ASH1L):c.5260A>T (p.Ser1754Cys)
NM_018489.3(ASH1L):c.5302C>T (p.Pro1768Ser)
NM_018489.3(ASH1L):c.5310C>A (p.Val1770=) rs61732805
NM_018489.3(ASH1L):c.5346A>G (p.Leu1782=)
NM_018489.3(ASH1L):c.5414G>A (p.Arg1805His)
NM_018489.3(ASH1L):c.5439C>T (p.Tyr1813=)
NM_018489.3(ASH1L):c.5440G>A (p.Asp1814Asn)
NM_018489.3(ASH1L):c.5975C>T (p.Ala1992Val)
NM_018489.3(ASH1L):c.6104-11T>C rs2148443415
NM_018489.3(ASH1L):c.6259G>A (p.Glu2087Lys)
NM_018489.3(ASH1L):c.6381A>G (p.Gln2127=)
NM_018489.3(ASH1L):c.6555G>A (p.Glu2185=)
NM_018489.3(ASH1L):c.6759T>C (p.Tyr2253=)
NM_018489.3(ASH1L):c.6837C>T (p.Ile2279=)
NM_018489.3(ASH1L):c.685C>T (p.Pro229Ser)
NM_018489.3(ASH1L):c.6880A>T (p.Asn2294Tyr)
NM_018489.3(ASH1L):c.6956A>G (p.Lys2319Arg)
NM_018489.3(ASH1L):c.7077T>C (p.His2359=) rs2148360045
NM_018489.3(ASH1L):c.7129A>G (p.Lys2377Glu) rs1654202268
NM_018489.3(ASH1L):c.7170C>G (p.Thr2390=) rs761224594
NM_018489.3(ASH1L):c.7548T>C (p.Asn2516=)
NM_018489.3(ASH1L):c.7558_7559dup (p.Tyr2521fs) rs2148337014
NM_018489.3(ASH1L):c.7633G>A (p.Ala2545Thr)
NM_018489.3(ASH1L):c.7890+279C>T
NM_018489.3(ASH1L):c.8414C>T (p.Ala2805Val)
NM_018489.3(ASH1L):c.8685A>C (p.Thr2895=)
NM_018489.3(ASH1L):c.881A>T (p.Asn294Ile)
NM_018489.3(ASH1L):c.944T>C (p.Val315Ala) rs1570944531
NM_018489.3(ASH1L):c.99T>C (p.Ser33=)

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.