ClinVar Miner

List of variants studied for Temtamy preaxial brachydactyly syndrome

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 155
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_014918.5(CHSY1):c.2322C>A (p.Thr774=) rs8024370 0.67566
NM_014918.5(CHSY1):c.1905G>C (p.Val635=) rs28364839 0.27694
NM_014918.5(CHSY1):c.303G>C (p.Arg101=) rs7176149 0.24315
NM_014918.5(CHSY1):c.57C>T (p.Gly19=) rs7175303 0.23372
NM_014918.5(CHSY1):c.2114G>A (p.Arg705Gln) rs62621399 0.10677
NM_014918.5(CHSY1):c.1075C>T (p.Pro359Ser) rs3743193 0.09931
NM_014918.5(CHSY1):c.1302C>T (p.Tyr434=) rs2005180 0.05576
NM_014918.5(CHSY1):c.1763G>C (p.Arg588Thr) rs62621400 0.04196
NM_014918.5(CHSY1):c.1473A>G (p.Gln491=) rs76457230 0.02740
NM_014918.5(CHSY1):c.1896C>T (p.Val632=) rs3803423 0.01721
NM_014918.5(CHSY1):c.1052A>G (p.Lys351Arg) rs74752435 0.01562
NM_014918.5(CHSY1):c.1812G>A (p.Val604=) rs3803422 0.01536
NM_014918.5(CHSY1):c.114C>T (p.Gly38=) rs773533401 0.00867
NM_014918.5(CHSY1):c.1566G>A (p.Ser522=) rs74784454 0.00742
NM_014918.5(CHSY1):c.333G>A (p.Lys111=) rs117481449 0.00530
NM_014918.5(CHSY1):c.423C>T (p.Asp141=) rs115447262 0.00473
NM_014918.5(CHSY1):c.1518T>C (p.Phe506=) rs145002451 0.00402
NM_014918.5(CHSY1):c.1325T>C (p.Met442Thr) rs148193087 0.00329
NM_014918.5(CHSY1):c.2088G>A (p.Thr696=) rs150245745 0.00223
NM_014918.5(CHSY1):c.39G>A (p.Leu13=) rs764100516 0.00178
NM_014918.5(CHSY1):c.1176C>T (p.Pro392=) rs147287474 0.00175
NM_014918.5(CHSY1):c.975C>T (p.Ser325=) rs142783588 0.00124
NM_014918.5(CHSY1):c.534A>G (p.Gly178=) rs3743192 0.00111
NM_014918.5(CHSY1):c.612G>A (p.Thr204=) rs145031427 0.00104
NM_014918.5(CHSY1):c.1725C>T (p.Asp575=) rs151237975 0.00091
NM_014918.5(CHSY1):c.1602A>T (p.Ile534=) rs146586939 0.00089
NM_014918.5(CHSY1):c.1957C>G (p.Gln653Glu) rs150075110 0.00088
NM_014918.5(CHSY1):c.21C>T (p.Arg7=) rs751409111 0.00086
NM_014918.5(CHSY1):c.1218C>T (p.Asp406=) rs113219895 0.00061
NM_014918.5(CHSY1):c.261C>T (p.Leu87=) rs369927768 0.00054
NM_014918.5(CHSY1):c.573C>T (p.Ser191=) rs147152103 0.00052
NM_014918.5(CHSY1):c.2040C>G (p.Ala680=) rs145837770 0.00049
NM_014918.5(CHSY1):c.698G>A (p.Arg233Gln) rs146924321 0.00049
NM_014918.5(CHSY1):c.1328A>G (p.Tyr443Cys) rs75034086 0.00027
NM_014918.5(CHSY1):c.479A>T (p.Tyr160Phe) rs778545156 0.00026
NM_014918.5(CHSY1):c.2352A>G (p.Lys784=) rs201612305 0.00024
NM_014918.5(CHSY1):c.2335G>A (p.Glu779Lys) rs370264590 0.00021
NM_014918.5(CHSY1):c.203C>T (p.Ala68Val) rs780349909 0.00020
NM_014918.5(CHSY1):c.1600A>T (p.Ile534Leu) rs141305214 0.00017
NM_014918.5(CHSY1):c.1772G>A (p.Arg591His) rs148790468 0.00017
NM_014918.5(CHSY1):c.209T>G (p.Leu70Arg) rs745978128 0.00015
NM_014918.5(CHSY1):c.730C>T (p.Arg244Trp) rs74040399 0.00014
NM_014918.5(CHSY1):c.798G>A (p.Gln266=) rs149739984 0.00014
NM_014918.5(CHSY1):c.787G>T (p.Ala263Ser) rs752265345 0.00011
NM_014918.5(CHSY1):c.843C>T (p.Tyr281=) rs181121069 0.00011
NM_014918.5(CHSY1):c.973T>A (p.Ser325Thr) rs765848875 0.00011
NM_014918.5(CHSY1):c.489G>A (p.Lys163=) rs146047900 0.00010
NM_014918.5(CHSY1):c.1893C>T (p.Asp631=) rs368276647 0.00009
NM_014918.5(CHSY1):c.320+6C>T rs553473414 0.00009
NM_014918.5(CHSY1):c.519C>T (p.Asp173=) rs143062356 0.00009
NM_014918.5(CHSY1):c.539G>A (p.Arg180His) rs770812991 0.00009
NM_014918.5(CHSY1):c.135C>T (p.Pro45=) rs921119348 0.00008
NM_014918.5(CHSY1):c.1555C>A (p.Leu519Ile) rs754947736 0.00006
NM_014918.5(CHSY1):c.1701C>T (p.Leu567=) rs192677621 0.00004
NM_014918.5(CHSY1):c.1718A>G (p.Asn573Ser) rs372414536 0.00004
NM_014918.5(CHSY1):c.697C>T (p.Arg233Trp) rs758494719 0.00004
NM_014918.5(CHSY1):c.1198G>A (p.Ala400Thr) rs573681382 0.00003
NM_014918.5(CHSY1):c.2293G>A (p.Gly765Arg) rs1315448986 0.00003
NM_014918.5(CHSY1):c.253A>G (p.Asn85Asp) rs762384442 0.00003
NM_014918.5(CHSY1):c.1972A>G (p.Ile658Val) rs570222707 0.00002
NM_014918.5(CHSY1):c.255C>T (p.Asn85=) rs775018701 0.00002
NM_014918.5(CHSY1):c.685C>T (p.Arg229Trp) rs757906025 0.00002
NM_014918.5(CHSY1):c.686G>A (p.Arg229Gln) rs757665488 0.00002
NM_014918.5(CHSY1):c.756C>T (p.Asp252=) rs145660234 0.00002
NM_014918.5(CHSY1):c.988C>T (p.Arg330Cys) rs768914522 0.00002
NM_014918.5(CHSY1):c.1109G>A (p.Arg370Gln) rs769801559 0.00001
NM_014918.5(CHSY1):c.1224T>C (p.Ile408=) rs1463101536 0.00001
NM_014918.5(CHSY1):c.1312C>T (p.Arg438Trp) rs773396835 0.00001
NM_014918.5(CHSY1):c.1468G>T (p.Ala490Ser) rs756263767 0.00001
NM_014918.5(CHSY1):c.1494T>C (p.Asn498=) rs567994246 0.00001
NM_014918.5(CHSY1):c.1552C>G (p.Gln518Glu) rs1274574182 0.00001
NM_014918.5(CHSY1):c.51C>T (p.Val17=) rs1192394140 0.00001
NM_014918.5(CHSY1):c.645T>A (p.Gly215=) rs567957962 0.00001
NM_014918.5(CHSY1):c.793G>A (p.Val265Met) rs372381623 0.00001
NM_014918.5(CHSY1):c.816+10G>C rs1261634441 0.00001
NM_014918.5(CHSY1):c.965G>A (p.Arg322His) rs140855609 0.00001
NM_014918.5(CHSY1):c.966C>T (p.Arg322=) rs911382649 0.00001
NM_014918.5(CHSY1):c.989G>A (p.Arg330His) rs749508854 0.00001
NM_014918.5(CHSY1):c.1002G>T (p.Leu334=)
NM_014918.5(CHSY1):c.1006C>T (p.Arg336Cys) rs1320280755
NM_014918.5(CHSY1):c.1111G>A (p.Glu371Lys) rs1596419433
NM_014918.5(CHSY1):c.1167C>T (p.Asp389=)
NM_014918.5(CHSY1):c.1183A>G (p.Arg395Gly)
NM_014918.5(CHSY1):c.120G>C (p.Arg40=)
NM_014918.5(CHSY1):c.1213T>C (p.Leu405=)
NM_014918.5(CHSY1):c.1267A>G (p.Arg423Gly) rs370806474
NM_014918.5(CHSY1):c.1296C>T (p.Ile432=)
NM_014918.5(CHSY1):c.1339T>C (p.Tyr447His)
NM_014918.5(CHSY1):c.138G>A (p.Glu46=)
NM_014918.5(CHSY1):c.1410C>T (p.His470=)
NM_014918.5(CHSY1):c.1412C>T (p.Ala471Val)
NM_014918.5(CHSY1):c.1472A>G (p.Gln491Arg)
NM_014918.5(CHSY1):c.1492A>T (p.Asn498Tyr)
NM_014918.5(CHSY1):c.14del (p.Gly5fs) rs1567112402
NM_014918.5(CHSY1):c.151G>A (p.Gly51Arg)
NM_014918.5(CHSY1):c.1548C>G (p.Pro516=)
NM_014918.5(CHSY1):c.158C>T (p.Ala53Val) rs2039108667
NM_014918.5(CHSY1):c.1616C>G (p.Pro539Arg) rs387906985
NM_014918.5(CHSY1):c.1670C>T (p.Thr557Met)
NM_014918.5(CHSY1):c.1689G>C (p.Gln563His)
NM_014918.5(CHSY1):c.1736A>G (p.Asp579Gly)
NM_014918.5(CHSY1):c.179_190dup (p.Gly60_Gly63dup) rs1555437965
NM_014918.5(CHSY1):c.182C>T (p.Ala61Val)
NM_014918.5(CHSY1):c.1865A>G (p.Asn622Ser)
NM_014918.5(CHSY1):c.1890C>T (p.Cys630=)
NM_014918.5(CHSY1):c.191A>C (p.Asp64Ala) rs2039108011
NM_014918.5(CHSY1):c.1926G>A (p.Gln642=)
NM_014918.5(CHSY1):c.2022C>A (p.Pro674=)
NM_014918.5(CHSY1):c.2029A>G (p.Asn677Asp) rs747715647
NM_014918.5(CHSY1):c.205C>T (p.Gln69Ter) rs387906984
NM_014918.5(CHSY1):c.2119G>A (p.Gly707Ser) rs773030000
NM_014918.5(CHSY1):c.2120G>T (p.Gly707Val)
NM_014918.5(CHSY1):c.219C>A (p.Pro73=) rs373485537
NM_014918.5(CHSY1):c.2202G>A (p.Thr734=)
NM_014918.5(CHSY1):c.2219T>C (p.Val740Ala)
NM_014918.5(CHSY1):c.2232C>T (p.His744=)
NM_014918.5(CHSY1):c.226G>A (p.Asp76Asn)
NM_014918.5(CHSY1):c.2273A>G (p.Lys758Arg) rs2038208535
NM_014918.5(CHSY1):c.2294G>C (p.Gly765Ala)
NM_014918.5(CHSY1):c.2307G>A (p.Ser769=)
NM_014918.5(CHSY1):c.2320A>G (p.Thr774Ala) rs556065115
NM_014918.5(CHSY1):c.2377A>G (p.Ser793Gly) rs960887600
NM_014918.5(CHSY1):c.2395G>T (p.Val799Leu)
NM_014918.5(CHSY1):c.2403A>G (p.Thr801=)
NM_014918.5(CHSY1):c.278C>G (p.Thr93Ser)
NM_014918.5(CHSY1):c.306C>A (p.Ala102=) rs753652939
NM_014918.5(CHSY1):c.320+20G>C rs2039105249
NM_014918.5(CHSY1):c.321-3C>G rs1567106459
NM_014918.5(CHSY1):c.404C>A (p.Pro135Gln)
NM_014918.5(CHSY1):c.417G>A (p.Val139=)
NM_014918.5(CHSY1):c.432G>A (p.Pro144=)
NM_014918.5(CHSY1):c.469C>G (p.His157Asp)
NM_014918.5(CHSY1):c.469C>T (p.His157Tyr) rs2141275520
NM_014918.5(CHSY1):c.477C>T (p.His159=)
NM_014918.5(CHSY1):c.48C>A (p.Leu16=)
NM_014918.5(CHSY1):c.49G>A (p.Val17Ile)
NM_014918.5(CHSY1):c.535G>T (p.Asp179Tyr) rs138311444
NM_014918.5(CHSY1):c.55_84del (p.Gly19_Leu28del)
NM_014918.5(CHSY1):c.574G>A (p.Glu192Lys)
NM_014918.5(CHSY1):c.576G>C (p.Glu192Asp)
NM_014918.5(CHSY1):c.580C>T (p.Leu194Phe)
NM_014918.5(CHSY1):c.582C>G (p.Leu194=) rs1475060155
NM_014918.5(CHSY1):c.666G>A (p.Gly222=) rs74545602
NM_014918.5(CHSY1):c.691G>T (p.Val231Leu) rs2038928981
NM_014918.5(CHSY1):c.727C>G (p.Leu243Val)
NM_014918.5(CHSY1):c.813T>C (p.Tyr271=)
NM_014918.5(CHSY1):c.816+10G>T
NM_014918.5(CHSY1):c.817-11T>C
NM_014918.5(CHSY1):c.817-11dup rs769105634
NM_014918.5(CHSY1):c.817-6T>G
NM_014918.5(CHSY1):c.949A>G (p.Ser317Gly) rs2038235884
NM_014918.5(CHSY1):c.94T>C (p.Ser32Pro) rs760263900
NM_014918.5(CHSY1):c.96del (p.Glu33fs) rs1596459125
NM_014918.5(CHSY1):c.971T>C (p.Ile324Thr) rs1596419735
NM_014918.5(CHSY1):c.986A>G (p.His329Arg) rs774636195

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.