ClinVar Miner

List of variants studied for congenital secretory chloride diarrhea 1

Included ClinVar conditions (1):
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ClinVar version:
Total variants: 155
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HGVS dbSNP gnomAD frequency
NM_000111.3(SLC26A3):c.1953T>C (p.Leu651=) rs41669 0.99393
NM_000111.3(SLC26A3):c.1299G>A (p.Ala433=) rs3735605 0.13922
NM_000111.3(SLC26A3):c.921T>G (p.Cys307Trp) rs34407351 0.03234
NM_000111.3(SLC26A3):c.889-6T>C rs17154430 0.01616
NM_000111.3(SLC26A3):c.241A>G (p.Ile81Val) rs116793431 0.01309
NM_000111.3(SLC26A3):c.203G>A (p.Arg68Gln) rs10280704 0.01252
NM_000111.3(SLC26A3):c.2258A>G (p.Asn753Ser) rs35342296 0.00878
NM_000111.3(SLC26A3):c.1529C>T (p.Thr510Met) rs60147601 0.00777
NM_000111.3(SLC26A3):c.*386G>A rs183578733 0.00733
NM_000111.3(SLC26A3):c.996C>T (p.Asp332=) rs35576676 0.00621
NM_000111.3(SLC26A3):c.1802T>C (p.Ile601Thr) rs35776303 0.00583
NM_000111.3(SLC26A3):c.378C>T (p.Ser126=) rs142349142 0.00575
NM_000111.3(SLC26A3):c.1314C>T (p.Ser438=) rs117703371 0.00462
NM_000111.3(SLC26A3):c.2092G>C (p.Glu698Gln) rs138002384 0.00264
NM_000111.3(SLC26A3):c.1273G>A (p.Val425Ile) rs146161125 0.00196
NM_000111.3(SLC26A3):c.*113T>C rs192893142 0.00168
NM_000111.3(SLC26A3):c.1661G>A (p.Arg554Gln) rs2301635 0.00056
NM_000111.3(SLC26A3):c.711C>G (p.His237Gln) rs145962719 0.00052
NM_000111.3(SLC26A3):c.571-9T>C rs200735098 0.00041
NM_000111.3(SLC26A3):c.972-14A>C rs188133558 0.00029
NM_000111.3(SLC26A3):c.271+7T>A rs200385882 0.00027
NM_000111.3(SLC26A3):c.1677+10G>A rs367754347 0.00019
NM_000111.3(SLC26A3):c.590G>A (p.Arg197Gln) rs201844799 0.00017
NM_004963.4(GUCY2C):c.2384G>A (p.Arg795Lys) rs147296490 0.00016
NM_000111.3(SLC26A3):c.891C>T (p.Thr297=) rs367700437 0.00012
NM_000111.3(SLC26A3):c.1786T>G (p.Cys596Gly) rs201220816 0.00010
NM_000111.3(SLC26A3):c.1234-9T>A rs763953558 0.00007
NM_000111.3(SLC26A3):c.295G>A (p.Asp99Asn) rs150004100 0.00007
NM_000111.3(SLC26A3):c.1744C>G (p.Gln582Glu) rs778338646 0.00006
NM_000111.3(SLC26A3):c.915C>T (p.Tyr305=) rs386833490 0.00006
NM_000111.3(SLC26A3):c.2063-1G>T rs386833471 0.00004
NM_000111.3(SLC26A3):c.358G>A (p.Gly120Ser) rs386833479 0.00004
NM_000111.3(SLC26A3):c.741A>G (p.Leu247=) rs188437289 0.00004
NM_000111.3(SLC26A3):c.1388G>A (p.Arg463Gln) rs751483686 0.00003
NM_000111.3(SLC26A3):c.455G>A (p.Arg152His) rs763721296 0.00003
NM_000111.3(SLC26A3):c.571-2A>G rs386833486 0.00003
NM_000111.3(SLC26A3):c.1177G>T (p.Gly393Trp) rs775664534 0.00002
NM_000111.3(SLC26A3):c.1696C>T (p.Arg566Ter) rs1018933248 0.00002
NM_000111.3(SLC26A3):c.*205G>C rs886061896 0.00001
NM_000111.3(SLC26A3):c.*227A>G rs1793899181 0.00001
NM_000111.3(SLC26A3):c.-169C>T rs1794626377 0.00001
NM_000111.3(SLC26A3):c.1136G>C (p.Gly379Ala) rs386833446 0.00001
NM_000111.3(SLC26A3):c.1865C>T (p.Thr622Ile) rs765515301 0.00001
NM_000111.3(SLC26A3):c.269_270dup (p.Gly91fs) rs386833476 0.00001
NM_000111.3(SLC26A3):c.344del (p.Ile115fs) rs386833478 0.00001
NM_000111.3(SLC26A3):c.408G>A (p.Met136Ile) rs386833483 0.00001
NM_000111.3(SLC26A3):c.510T>G (p.Asp170Glu) rs886061904 0.00001
NM_000111.3(SLC26A3):c.614del (p.Leu205fs) rs1264217866 0.00001
NM_000111.3(SLC26A3):c.736-9T>C rs374479892 0.00001
NM_000111.3(SLC26A3):c.*130C>T rs886061898
NM_000111.3(SLC26A3):c.*196T>C rs886061897
NM_000111.3(SLC26A3):c.-3_13del (p.Met1fs)
NM_000111.3(SLC26A3):c.-40C>T rs187600896
NM_000111.3(SLC26A3):c.-88-9T>G rs886061905
NM_000111.3(SLC26A3):c.-89+12A>G rs1794624904
NM_000111.3(SLC26A3):c.-90A>G rs554796886
NM_000111.3(SLC26A3):c.1028G>A (p.Cys343Tyr) rs386833444
NM_000111.3(SLC26A3):c.1030_1047delinsGATGCC (p.Phe344_Val349delinsAspAla) rs386833445
NM_000111.3(SLC26A3):c.1039G>A (p.Ala347Thr)
NM_000111.3(SLC26A3):c.1082A>G (p.Tyr361Cys) rs1584407007
NM_000111.3(SLC26A3):c.1120-2A>G
NM_000111.3(SLC26A3):c.1120G>C (p.Glu374Gln)
NM_000111.3(SLC26A3):c.1120G>T (p.Glu374Ter)
NM_000111.3(SLC26A3):c.1148_1149del (p.Ile383fs) rs386833447
NM_000111.3(SLC26A3):c.1232A>T (p.Gln411Leu) rs1794235862
NM_000111.3(SLC26A3):c.1234-17dup rs139350060
NM_000111.3(SLC26A3):c.1262del (p.Val421fs)
NM_000111.3(SLC26A3):c.1306C>T (p.Gln436Ter) rs386833448
NM_000111.3(SLC26A3):c.1307A>G (p.Gln436Arg) rs1203528953
NM_000111.3(SLC26A3):c.1312-1G>A rs386833449
NM_000111.3(SLC26A3):c.1312-1G>T rs386833449
NM_000111.3(SLC26A3):c.1312T>C (p.Ser438Pro)
NM_000111.3(SLC26A3):c.1342_1343del (p.Leu448fs) rs386833450
NM_000111.3(SLC26A3):c.1360C>T (p.Gln454Ter) rs386833451
NM_000111.3(SLC26A3):c.1362del (p.Gln454fs) rs386833452
NM_000111.3(SLC26A3):c.1386G>A (p.Trp462Ter) rs121913033
NM_000111.3(SLC26A3):c.1387C>T (p.Arg463Ter) rs386833453
NM_000111.3(SLC26A3):c.1402G>A (p.Asp468Asn) rs886061901
NM_000111.3(SLC26A3):c.1403A>T (p.Asp468Val) rs386833454
NM_000111.3(SLC26A3):c.1408-1G>A rs386833455
NM_000111.3(SLC26A3):c.1409T>G (p.Leu470Ter)
NM_000111.3(SLC26A3):c.145_157del (p.Lys49fs) rs386833456
NM_000111.3(SLC26A3):c.1482T>C (p.Phe494=) rs1794152514
NM_000111.3(SLC26A3):c.1487T>G (p.Leu496Arg) rs386833457
NM_000111.3(SLC26A3):c.1511A>C (p.Gln504Pro)
NM_000111.3(SLC26A3):c.1514+1G>A
NM_000111.3(SLC26A3):c.1515-2del rs386833458
NM_000111.3(SLC26A3):c.1517del (p.Pro506fs) rs386833459
NM_000111.3(SLC26A3):c.1526_1527del (p.Ser509fs) rs386833460
NM_000111.3(SLC26A3):c.1533_1536del (p.Ala512fs)
NM_000111.3(SLC26A3):c.1551_1554del (p.Asn518fs) rs386833461
NM_000111.3(SLC26A3):c.1559A>G (p.Tyr520Cys) rs386833462
NM_000111.3(SLC26A3):c.1563G>C (p.Lys521Asn) rs386833463
NM_000111.3(SLC26A3):c.1576TAT[1] (p.Tyr527del) rs386833464
NM_000111.3(SLC26A3):c.1609del (p.Ile537fs) rs386833465
NM_000111.3(SLC26A3):c.1624_1626delinsC (p.Ser542fs) rs386833466
NM_000111.3(SLC26A3):c.1631T>A (p.Ile544Asn) rs386833467
NM_000111.3(SLC26A3):c.1652del (p.Phe551fs) rs1584403556
NM_000111.3(SLC26A3):c.1674del (p.Asp558fs)
NM_000111.3(SLC26A3):c.1675G>C (p.Ala559Pro) rs886061900
NM_000111.3(SLC26A3):c.1679T>A (p.Val560Asp)
NM_000111.3(SLC26A3):c.1728G>C (p.Arg576Ser)
NM_000111.3(SLC26A3):c.1735C>T (p.Arg579Ter)
NM_000111.3(SLC26A3):c.177dup (p.Ile60fs) rs386833468
NM_000111.3(SLC26A3):c.1843G>A (p.Val615Ile)
NM_000111.3(SLC26A3):c.1916T>A (p.Ile639Asn) rs777491431
NM_000111.3(SLC26A3):c.1954G>A (p.Asp652Asn)
NM_000111.3(SLC26A3):c.1990del (p.Ser663_Val664insTer) rs386833469
NM_000111.3(SLC26A3):c.2013G>C (p.Leu671Phe) rs1794039116
NM_000111.3(SLC26A3):c.2024_2026dup (p.Ile675dup) rs121913031
NM_000111.3(SLC26A3):c.202C>T (p.Arg68Trp)
NM_000111.3(SLC26A3):c.2100dup (p.Asp701Ter)
NM_000111.3(SLC26A3):c.2104_2105delinsACCGGTTTTGAAGTGAAAATTCAAAATTT (p.Gly702delinsThrGlyPheGluValLysIleGlnAsnPhe) rs386833472
NM_000111.3(SLC26A3):c.2116del (p.Ser706fs) rs386833473
NM_000111.3(SLC26A3):c.2132T>G (p.Leu711Ter) rs386833474
NM_000111.3(SLC26A3):c.2155C>T (p.His719Tyr) rs886061899
NM_000111.3(SLC26A3):c.2169G>C (p.Lys723Asn) rs142908255
NM_000111.3(SLC26A3):c.2205+3A>G rs386833475
NM_000111.3(SLC26A3):c.2272-3del rs773346631
NM_000111.3(SLC26A3):c.261C>A (p.Ala87=) rs202020458
NM_000111.3(SLC26A3):c.332del (p.Phe111fs) rs386833477
NM_000111.3(SLC26A3):c.357C>A (p.Phe119Leu) rs73419912
NM_000111.3(SLC26A3):c.357C>T (p.Phe119=) rs73419912
NM_000111.3(SLC26A3):c.371A>T (p.His124Leu) rs121913030
NM_000111.3(SLC26A3):c.386C>T (p.Pro129Leu) rs386833480
NM_000111.3(SLC26A3):c.392C>G (p.Pro131Arg) rs386833481
NM_000111.3(SLC26A3):c.392C>T (p.Pro131Leu) rs386833481
NM_000111.3(SLC26A3):c.392del (p.Pro131fs) rs386833482
NM_000111.3(SLC26A3):c.404T>C (p.Met135Thr) rs1794395844
NM_000111.3(SLC26A3):c.431C>T (p.Ala144Val)
NM_000111.3(SLC26A3):c.48T>G (p.Tyr16Ter)
NM_000111.3(SLC26A3):c.525G>C (p.Arg175Ser) rs386833484
NM_000111.3(SLC26A3):c.526dup (p.Val176fs)
NM_000111.3(SLC26A3):c.529G>A (p.Ala177Thr) rs769586560
NM_000111.3(SLC26A3):c.559G>T (p.Gly187Ter) rs121913032
NM_000111.3(SLC26A3):c.570+8C>T rs886061903
NM_000111.3(SLC26A3):c.571-1G>T rs386833485
NM_000111.3(SLC26A3):c.575del (p.Ala192fs)
NM_000111.3(SLC26A3):c.58G>A (p.Ala20Thr) rs1794460895
NM_000111.3(SLC26A3):c.610T>G (p.Tyr204Asp) rs386833487
NM_000111.3(SLC26A3):c.616T>C (p.Ser206Pro) rs386833488
NM_000111.3(SLC26A3):c.623C>A (p.Ser208Tyr) rs1794359511
NM_000111.3(SLC26A3):c.659A>C (p.His220Pro) rs386833489
NM_000111.3(SLC26A3):c.670del (p.Ser224fs)
NM_000111.3(SLC26A3):c.735+4_735+7del
NM_000111.3(SLC26A3):c.735+708_971+1514del
NM_000111.3(SLC26A3):c.738A>G (p.Val246=) rs886061902
NM_000111.3(SLC26A3):c.842G>A (p.Arg281His)
NM_000111.3(SLC26A3):c.874A>G (p.Ile292Val)
NM_000111.3(SLC26A3):c.877G>A (p.Glu293Lys)
NM_000111.3(SLC26A3):c.888+5T>C rs1377104247
NM_000111.3(SLC26A3):c.915C>A (p.Tyr305Ter) rs386833490
NM_000111.3(SLC26A3):c.926_927del (p.Asp308_Phe309insTer)
NM_000111.3(SLC26A3):c.951_953del (p.Val318del) rs386833491
NM_000111.3(SLC26A3):c.971+3_971+4del

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