ClinVar Miner

List of variants in gene HUWE1 studied for not specified

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 75
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_031407.7(HUWE1):c.12177T>C (p.Gly4059=) rs426298 0.99420
NM_031407.7(HUWE1):c.2109A>G (p.Ser703=) rs6638360 0.40138
NM_031407.7(HUWE1):c.1448A>G (p.Asn483Ser) rs41307640 0.01900
NM_031407.7(HUWE1):c.8694G>A (p.Ala2898=) rs61742949 0.01493
NM_031407.7(HUWE1):c.6031-4T>A rs139283158 0.01245
NM_031407.7(HUWE1):c.99A>G (p.Gln33=) rs61743595 0.01179
NM_031407.7(HUWE1):c.5716+5G>A rs139135300 0.01175
NM_031407.7(HUWE1):c.10101G>A (p.Arg3367=) rs41306894 0.00734
NM_031407.7(HUWE1):c.6097+7A>C rs147480463 0.00694
NM_031407.7(HUWE1):c.10551G>T (p.Leu3517=) rs61730217 0.00593
NM_031407.7(HUWE1):c.5091A>G (p.Gly1697=) rs149893977 0.00142
NM_031407.7(HUWE1):c.1953C>G (p.Pro651=) rs139152809 0.00108
NM_031407.7(HUWE1):c.4503C>T (p.Pro1501=) rs144449744 0.00095
NM_031407.7(HUWE1):c.3082A>G (p.Thr1028Ala) rs145758265 0.00081
NM_031407.7(HUWE1):c.9213T>C (p.Arg3071=) rs112038748 0.00058
NM_031407.7(HUWE1):c.8298A>G (p.Gln2766=) rs202214456 0.00053
NM_031407.7(HUWE1):c.654T>C (p.Ser218=) rs148129382 0.00050
NM_031407.7(HUWE1):c.2784A>G (p.Gln928=) rs148400203 0.00043
NM_031407.7(HUWE1):c.2050-9G>T rs377186422 0.00031
NM_031407.7(HUWE1):c.5642A>G (p.Asn1881Ser) rs201965065 0.00015
NM_031407.7(HUWE1):c.10824C>G (p.Leu3608=) rs191407530 0.00012
NM_031407.7(HUWE1):c.3114C>T (p.Ile1038=) rs781848587 0.00008
NM_031407.7(HUWE1):c.9486C>T (p.Asn3162=) rs150660551 0.00008
NM_031407.7(HUWE1):c.147C>T (p.Cys49=) rs149435515 0.00006
NM_031407.7(HUWE1):c.5373T>C (p.Tyr1791=) rs782516736 0.00005
NM_031407.7(HUWE1):c.1470A>G (p.Glu490=) rs145143264 0.00004
NM_031407.7(HUWE1):c.10038A>G (p.Val3346=) rs1169705354 0.00003
NM_031407.7(HUWE1):c.238G>A (p.Val80Ile) rs373104305 0.00003
NM_031407.7(HUWE1):c.4827C>T (p.Tyr1609=) rs782435043 0.00003
NM_031407.7(HUWE1):c.957G>T (p.Gln319His) rs782234241 0.00003
NM_031407.7(HUWE1):c.1000A>G (p.Ile334Val) rs781928056 0.00002
NM_031407.7(HUWE1):c.10614G>A (p.Thr3538=) rs138042974 0.00002
NM_031407.7(HUWE1):c.10898C>T (p.Thr3633Ile) rs781873282 0.00002
NM_031407.7(HUWE1):c.1188C>T (p.Tyr396=) rs782115290 0.00002
NM_031407.7(HUWE1):c.1243-8C>T rs781931508 0.00002
NM_031407.7(HUWE1):c.6149G>A (p.Arg2050Gln) rs782428636 0.00002
NM_031407.7(HUWE1):c.9097-6C>T rs781879725 0.00002
NM_031407.7(HUWE1):c.9981A>G (p.Gln3327=) rs1372957151 0.00002
NM_031407.7(HUWE1):c.10035+6G>A rs782009073 0.00001
NM_031407.7(HUWE1):c.10470A>G (p.Thr3490=) rs1192210543 0.00001
NM_031407.7(HUWE1):c.11252-8T>C rs781802926 0.00001
NM_031407.7(HUWE1):c.11625G>A (p.Ala3875=) rs782743763 0.00001
NM_031407.7(HUWE1):c.1363A>G (p.Ile455Val) rs1557019212 0.00001
NM_031407.7(HUWE1):c.4520C>A (p.Thr1507Lys) rs1382783056 0.00001
NM_031407.7(HUWE1):c.8682A>G (p.Pro2894=) rs1556930356 0.00001
NM_031407.7(HUWE1):c.10036-7C>T
NM_031407.7(HUWE1):c.10087A>G (p.Ser3363Gly)
NM_031407.7(HUWE1):c.1115A>T (p.Asp372Val) rs797045617
NM_031407.7(HUWE1):c.11215C>G (p.Arg3739Gly) rs2147135304
NM_031407.7(HUWE1):c.12245G>A (p.Arg4082His) rs797045618
NM_031407.7(HUWE1):c.12831+8G>A rs797045619
NM_031407.7(HUWE1):c.12903= (p.Thr4301=) rs477171
NM_031407.7(HUWE1):c.1885C>T (p.Arg629Cys) rs797045620
NM_031407.7(HUWE1):c.2056G>A (p.Glu686Lys)
NM_031407.7(HUWE1):c.2262-8C>T rs1057523417
NM_031407.7(HUWE1):c.2866_2876+22dup rs1556993139
NM_031407.7(HUWE1):c.2971+19A>T rs2148634889
NM_031407.7(HUWE1):c.328C>T (p.Arg110Trp) rs1057520538
NM_031407.7(HUWE1):c.4310A>T (p.His1437Leu)
NM_031407.7(HUWE1):c.4312A>G (p.Thr1438Ala) rs1064796450
NM_031407.7(HUWE1):c.4441C>A (p.Leu1481Met) rs2148411918
NM_031407.7(HUWE1):c.4461+19A>G
NM_031407.7(HUWE1):c.4637G>C (p.Trp1546Ser) rs864309623
NM_031407.7(HUWE1):c.5108C>T (p.Thr1703Met)
NM_031407.7(HUWE1):c.5716+3A>G rs1556966693
NM_031407.7(HUWE1):c.6301C>G (p.Leu2101Val) rs1556954998
NM_031407.7(HUWE1):c.6399C>T (p.Arg2133=) rs2062734039
NM_031407.7(HUWE1):c.645+1G>T rs797045621
NM_031407.7(HUWE1):c.7597G>A (p.Gly2533Ser) rs2147610748
NM_031407.7(HUWE1):c.7736+9C>T rs1556939479
NM_031407.7(HUWE1):c.8006-11C>G rs1556937860
NM_031407.7(HUWE1):c.816G>C (p.Lys272Asn) rs864309624
NM_031407.7(HUWE1):c.8727A>G (p.Glu2909=)
NM_031407.7(HUWE1):c.9468_9470del (p.Gly3157del) rs782375893
NM_031407.7(HUWE1):c.9920G>T (p.Gly3307Val)

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.