ClinVar Miner

List of variants in gene HINT1 studied for Gamstorp-Wohlfart syndrome

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 91
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_005340.7(HINT1):c.57T>C (p.Phe19=) rs4696 0.12656
NM_005340.7(HINT1):c.117T>C (p.Leu39=) rs78949626 0.00394
NM_005340.7(HINT1):c.330C>T (p.His110=) rs139624223 0.00191
NM_005340.7(HINT1):c.198A>G (p.Ala66=) rs150581567 0.00130
NM_005340.7(HINT1):c.110G>C (p.Arg37Pro) rs149782619 0.00064
NM_005340.7(HINT1):c.111+6_111+7insC rs770851222 0.00034
NM_005340.7(HINT1):c.159G>A (p.Leu53=) rs199716973 0.00010
NM_005340.7(HINT1):c.33T>G (p.Ala11=) rs752008656 0.00005
NM_005340.7(HINT1):c.203A>T (p.Asp68Val) rs371048016 0.00004
NM_005340.7(HINT1):c.73A>C (p.Lys25Gln) rs747865723 0.00004
NM_005340.7(HINT1):c.103G>T (p.Asp35Tyr) rs1344585939 0.00003
NM_005340.7(HINT1):c.278G>A (p.Gly93Asp) rs397514493 0.00003
NM_005340.7(HINT1):c.283C>T (p.Arg95Ter) rs145306016 0.00002
NM_005340.7(HINT1):c.334C>A (p.His112Asn) rs373849532 0.00002
NM_005340.7(HINT1):c.112-13C>T rs751481922 0.00001
NM_005340.7(HINT1):c.112T>C (p.Cys38Arg) rs762701283 0.00001
NM_005340.7(HINT1):c.119C>G (p.Ala40Gly) rs1561537337 0.00001
NM_005340.7(HINT1):c.148A>G (p.Thr50Ala) rs368167215 0.00001
NM_005340.7(HINT1):c.188T>A (p.Ile63Asn) rs1048322333 0.00001
NM_005340.7(HINT1):c.211G>A (p.Glu71Lys) rs750027964 0.00001
NM_005340.7(HINT1):c.216T>A (p.Ser72Arg) rs780762280 0.00001
NM_005340.7(HINT1):c.237T>A (p.Ile79=) rs778878755 0.00001
NM_005340.7(HINT1):c.250T>C (p.Cys84Arg) rs397514489 0.00001
NM_005340.7(HINT1):c.277G>T (p.Gly93Cys) rs755979803 0.00001
NM_005340.7(HINT1):c.284G>A (p.Arg95Gln) rs373197800 0.00001
NM_005340.7(HINT1):c.302G>A (p.Gly101Asp) rs1333885799 0.00001
NM_005340.7(HINT1):c.331G>A (p.Val111Ile) rs147406252 0.00001
NM_005340.7(HINT1):c.355C>T (p.Arg119Trp) rs768248277 0.00001
NM_005340.7(HINT1):c.365A>T (p.His122Leu) rs780156681 0.00001
NM_005340.7(HINT1):c.54C>G (p.Ile18Met) rs1755366892 0.00001
NM_005340.7(HINT1):c.59G>A (p.Gly20Glu) rs773013836 0.00001
NM_005340.7(HINT1):c.61A>G (p.Lys21Glu) rs1755366589 0.00001
NM_005340.7(HINT1):c.92T>C (p.Ile31Thr) rs768463956 0.00001
NC_000005.10:g.(?_131159273)_(131165358_?)del
NC_000005.10:g.(?_131159427)_(131165225_?)del
NC_000005.9:g.(?_130494966)_(130501051_?)dup
NC_000005.9:g.(?_130495140)_(130500898_?)del
NC_000005.9:g.(?_130495140)_130500898del
NC_000005.9:g.(?_130500743)_(130501051_?)del
NM_005340.7(HINT1):c.110G>A (p.Arg37Gln) rs149782619
NM_005340.7(HINT1):c.111+2del rs2149654857
NM_005340.7(HINT1):c.112-1del
NM_005340.7(HINT1):c.112-29ATTT[3] rs1064794666
NM_005340.7(HINT1):c.112-29ATTT[5] rs1064794666
NM_005340.7(HINT1):c.117T>A (p.Leu39=) rs78949626
NM_005340.7(HINT1):c.136C>T (p.Pro46Ser) rs1755287620
NM_005340.7(HINT1):c.137C>A (p.Pro46His) rs1580684679
NM_005340.7(HINT1):c.13A>C (p.Ile5Leu) rs1378724374
NM_005340.7(HINT1):c.142G>A (p.Ala48Thr) rs1755287235
NM_005340.7(HINT1):c.148A>C (p.Thr50Pro) rs368167215
NM_005340.7(HINT1):c.152A>G (p.His51Arg) rs397514491
NM_005340.7(HINT1):c.157del (p.Leu53fs) rs1289497047
NM_005340.7(HINT1):c.160G>T (p.Val54Leu)
NM_005340.7(HINT1):c.167C>T (p.Pro56Leu) rs1376505274
NM_005340.7(HINT1):c.184C>T (p.Gln62Ter) rs397514492
NM_005340.7(HINT1):c.188T>C (p.Ile63Thr) rs1048322333
NM_005340.7(HINT1):c.190del (p.Ser64fs)
NM_005340.7(HINT1):c.192T>C (p.Ser64=)
NM_005340.7(HINT1):c.216+9A>C rs751105694
NM_005340.7(HINT1):c.217-3C>T rs1351028496
NM_005340.7(HINT1):c.242G>T (p.Gly81Val) rs1580682534
NM_005340.7(HINT1):c.243C>T (p.Gly81=) rs1426690264
NM_005340.7(HINT1):c.245A>T (p.Lys82Met) rs1755197320
NM_005340.7(HINT1):c.251G>A (p.Cys84Tyr)
NM_005340.7(HINT1):c.262C>A (p.Leu88Met) rs753840070
NM_005340.7(HINT1):c.266G>T (p.Gly89Val) rs397514490
NM_005340.7(HINT1):c.276G>A (p.Lys92=)
NM_005340.7(HINT1):c.278G>T (p.Gly93Val) rs397514493
NM_005340.7(HINT1):c.281A>G (p.Tyr94Cys)
NM_005340.7(HINT1):c.289G>A (p.Val97Met) rs1554088064
NM_005340.7(HINT1):c.292G>A (p.Val98Met) rs1755196174
NM_005340.7(HINT1):c.292del (p.Val97_Val98insTer) rs2149651165
NM_005340.7(HINT1):c.299A>G (p.Glu100Gly)
NM_005340.7(HINT1):c.2T>C (p.Met1Thr) rs1580686455
NM_005340.7(HINT1):c.30C>A (p.Val10=)
NM_005340.7(HINT1):c.316C>T (p.Gln106Ter) rs1028404937
NM_005340.7(HINT1):c.329_330dup (p.Val111fs) rs1561535921
NM_005340.7(HINT1):c.342T>C (p.His114=)
NM_005340.7(HINT1):c.355C>G (p.Arg119Gly)
NM_005340.7(HINT1):c.368G>A (p.Trp123Ter) rs1580682390
NM_005340.7(HINT1):c.369G>A (p.Trp123Ter) rs2149651078
NM_005340.7(HINT1):c.36G>A (p.Arg12=)
NM_005340.7(HINT1):c.375del (p.Gly126fs) rs1755193199
NM_005340.7(HINT1):c.378T>A (p.Gly126=)
NM_005340.7(HINT1):c.38C>G (p.Pro13Arg)
NM_005340.7(HINT1):c.63G>A (p.Lys21=) rs2149654918
NM_005340.7(HINT1):c.71G>T (p.Arg24Leu) rs201262077
NM_005340.7(HINT1):c.81A>G (p.Ile27Met) rs1561538396
NM_005340.7(HINT1):c.82C>A (p.Pro28Thr) rs1300880074
NM_005340.7(HINT1):c.84A>G (p.Pro28=)
NM_005340.7(HINT1):c.99del (p.Phe33fs) rs2149654884

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.