ClinVar Miner

List of variants in gene DSE studied for Inborn genetic diseases

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Total variants: 80
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HGVS dbSNP gnomAD frequency
NM_013352.4(DSE):c.1961G>A (p.Arg654Gln) rs61741781 0.00109
NM_013352.4(DSE):c.35T>A (p.Phe12Tyr) rs142885560 0.00024
NM_013352.4(DSE):c.2761A>G (p.Thr921Ala) rs143226402 0.00021
NM_013352.4(DSE):c.1381G>A (p.Ala461Thr) rs181711422 0.00015
NM_013352.4(DSE):c.2168G>A (p.Arg723Gln) rs371043332 0.00011
NM_013352.4(DSE):c.2842T>C (p.Trp948Arg) rs146336077 0.00011
NM_013352.4(DSE):c.68A>G (p.Tyr23Cys) rs140339574 0.00011
NM_013352.4(DSE):c.1751C>T (p.Ala584Val) rs369887455 0.00009
NM_013352.4(DSE):c.2663C>G (p.Thr888Ser) rs376771433 0.00009
NM_013352.4(DSE):c.1222G>A (p.Ala408Thr) rs150311697 0.00007
NM_013352.4(DSE):c.208C>T (p.Arg70Cys) rs375337613 0.00006
NM_013352.4(DSE):c.826G>A (p.Val276Ile) rs754514077 0.00006
NM_013352.4(DSE):c.2072A>G (p.Lys691Arg) rs148121424 0.00005
NM_013352.4(DSE):c.1198G>A (p.Val400Met) rs763556352 0.00003
NM_013352.4(DSE):c.1841A>G (p.Tyr614Cys) rs749683894 0.00003
NM_013352.4(DSE):c.2213A>G (p.Tyr738Cys) rs917359394 0.00003
NM_013352.4(DSE):c.230C>T (p.Thr77Met) rs150685110 0.00003
NM_013352.4(DSE):c.2344G>T (p.Asp782Tyr) rs140764351 0.00003
NM_013352.4(DSE):c.2443C>T (p.Arg815Cys) rs760979521 0.00003
NM_013352.4(DSE):c.2500A>G (p.Lys834Glu) rs760233377 0.00003
NM_013352.4(DSE):c.2090A>G (p.Tyr697Cys) rs370594290 0.00002
NM_013352.4(DSE):c.2291T>A (p.Val764Asp) rs762654146 0.00002
NM_013352.4(DSE):c.2495A>G (p.Asn832Ser) rs774802002 0.00002
NM_013352.4(DSE):c.1139C>T (p.Ser380Leu) rs748219271 0.00001
NM_013352.4(DSE):c.1144C>T (p.Pro382Ser) rs199585272 0.00001
NM_013352.4(DSE):c.1312G>C (p.Asp438His) rs768202990 0.00001
NM_013352.4(DSE):c.1609A>T (p.Ile537Phe) rs1213902929 0.00001
NM_013352.4(DSE):c.171G>T (p.Gln57His) rs1192562342 0.00001
NM_013352.4(DSE):c.2075A>G (p.His692Arg) rs374283523 0.00001
NM_013352.4(DSE):c.2294G>A (p.Arg765Gln) rs773782030 0.00001
NM_013352.4(DSE):c.2332C>G (p.Leu778Val) rs1355449404 0.00001
NM_013352.4(DSE):c.2347A>G (p.Lys783Glu) rs1784189166 0.00001
NM_013352.4(DSE):c.2549T>C (p.Ile850Thr) rs1562315965 0.00001
NM_013352.4(DSE):c.2599T>C (p.Tyr867His) rs778229447 0.00001
NM_013352.4(DSE):c.2608C>T (p.His870Tyr) rs746254694 0.00001
NM_013352.4(DSE):c.285T>G (p.Ser95Arg) rs781449748 0.00001
NM_013352.4(DSE):c.59T>G (p.Val20Gly) rs776155011 0.00001
NM_013352.4(DSE):c.5G>A (p.Arg2Lys) rs1367654249 0.00001
NM_013352.4(DSE):c.1051G>A (p.Val351Met) rs986807496
NM_013352.4(DSE):c.1057G>C (p.Glu353Gln)
NM_013352.4(DSE):c.1214C>T (p.Ala405Val) rs2482297233
NM_013352.4(DSE):c.1271G>A (p.Gly424Glu) rs1554228071
NM_013352.4(DSE):c.1420G>C (p.Gly474Arg) rs1245898059
NM_013352.4(DSE):c.1465G>A (p.Ala489Thr) rs2482299486
NM_013352.4(DSE):c.1499G>A (p.Gly500Asp) rs1554228151
NM_013352.4(DSE):c.1525A>G (p.Lys509Glu)
NM_013352.4(DSE):c.1549C>G (p.Leu517Val) rs995025209
NM_013352.4(DSE):c.1627G>A (p.Gly543Arg) rs1395280206
NM_013352.4(DSE):c.1631C>A (p.Ala544Asp) rs2482300789
NM_013352.4(DSE):c.1670A>C (p.Asn557Thr)
NM_013352.4(DSE):c.1687C>T (p.Pro563Ser)
NM_013352.4(DSE):c.1706T>C (p.Val569Ala)
NM_013352.4(DSE):c.1710C>A (p.Asp570Glu) rs2482301694
NM_013352.4(DSE):c.1717C>T (p.His573Tyr)
NM_013352.4(DSE):c.179C>G (p.Ala60Gly) rs2482084366
NM_013352.4(DSE):c.1864A>G (p.Thr622Ala)
NM_013352.4(DSE):c.1901C>T (p.Thr634Ile) rs2482303358
NM_013352.4(DSE):c.2063C>T (p.Ala688Val) rs143443243
NM_013352.4(DSE):c.2198C>G (p.Pro733Arg)
NM_013352.4(DSE):c.2233A>T (p.Asn745Tyr) rs2482306271
NM_013352.4(DSE):c.2252C>G (p.Pro751Arg)
NM_013352.4(DSE):c.2306G>C (p.Ser769Thr) rs2482306797
NM_013352.4(DSE):c.2310T>G (p.Phe770Leu) rs2482306844
NM_013352.4(DSE):c.2356A>T (p.Thr786Ser) rs755066741
NM_013352.4(DSE):c.2427C>A (p.Asn809Lys)
NM_013352.4(DSE):c.243C>A (p.Ser81Arg)
NM_013352.4(DSE):c.2482C>G (p.Gln828Glu)
NM_013352.4(DSE):c.2564A>T (p.Glu855Val)
NM_013352.4(DSE):c.2647G>T (p.Ala883Ser) rs1175622871
NM_013352.4(DSE):c.2821A>G (p.Ile941Val)
NM_013352.4(DSE):c.2861C>T (p.Ser954Phe) rs2482311922
NM_013352.4(DSE):c.376G>A (p.Ala126Thr)
NM_013352.4(DSE):c.387del (p.Asp128_Tyr129insTer) rs1781476734
NM_013352.4(DSE):c.41T>A (p.Ile14Lys) rs2482082964
NM_013352.4(DSE):c.528G>C (p.Lys176Asn)
NM_013352.4(DSE):c.544G>T (p.Ala182Ser)
NM_013352.4(DSE):c.57T>G (p.Phe19Leu)
NM_013352.4(DSE):c.631A>G (p.Met211Val)
NM_013352.4(DSE):c.817A>G (p.Met273Val)
NM_013352.4(DSE):c.980T>C (p.Val327Ala)

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