ClinVar Miner

List of variants studied for Temtamy preaxial brachydactyly syndrome by Invitae

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ClinVar version:
Total variants: 145
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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.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.1492A>T (p.Asn498Tyr)
NM_014918.5(CHSY1):c.1548C>G (p.Pro516=)
NM_014918.5(CHSY1):c.158C>T (p.Ala53Val) rs2039108667
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.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.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.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.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.971T>C (p.Ile324Thr) rs1596419735
NM_014918.5(CHSY1):c.986A>G (p.His329Arg) rs774636195

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