ClinVar Miner

List of variants reported as uncertain significance for congenital secretory chloride diarrhea 1

Included ClinVar conditions (1):
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Total variants: 52
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HGVS dbSNP gnomAD frequency
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.271+7T>A rs200385882 0.00027
NM_000111.3(SLC26A3):c.1677+10G>A rs367754347 0.00019
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.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.*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.510T>G (p.Asp170Glu) rs886061904 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.-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.1082A>G (p.Tyr361Cys) rs1584407007
NM_000111.3(SLC26A3):c.1120G>C (p.Glu374Gln)
NM_000111.3(SLC26A3):c.1232A>T (p.Gln411Leu) rs1794235862
NM_000111.3(SLC26A3):c.1402G>A (p.Asp468Asn) rs886061901
NM_000111.3(SLC26A3):c.1482T>C (p.Phe494=) rs1794152514
NM_000111.3(SLC26A3):c.1511A>C (p.Gln504Pro)
NM_000111.3(SLC26A3):c.1675G>C (p.Ala559Pro) rs886061900
NM_000111.3(SLC26A3):c.1728G>C (p.Arg576Ser)
NM_000111.3(SLC26A3):c.1843G>A (p.Val615Ile)
NM_000111.3(SLC26A3):c.1916T>A (p.Ile639Asn) rs777491431
NM_000111.3(SLC26A3):c.2013G>C (p.Leu671Phe) rs1794039116
NM_000111.3(SLC26A3):c.202C>T (p.Arg68Trp)
NM_000111.3(SLC26A3):c.2155C>T (p.His719Tyr) rs886061899
NM_000111.3(SLC26A3):c.2272-3del rs773346631
NM_000111.3(SLC26A3):c.261C>A (p.Ala87=) rs202020458
NM_000111.3(SLC26A3):c.392C>G (p.Pro131Arg) rs386833481
NM_000111.3(SLC26A3):c.404T>C (p.Met135Thr) rs1794395844
NM_000111.3(SLC26A3):c.431C>T (p.Ala144Val)
NM_000111.3(SLC26A3):c.529G>A (p.Ala177Thr) rs769586560
NM_000111.3(SLC26A3):c.570+8C>T rs886061903
NM_000111.3(SLC26A3):c.58G>A (p.Ala20Thr) rs1794460895
NM_000111.3(SLC26A3):c.623C>A (p.Ser208Tyr) rs1794359511
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.888+5T>C rs1377104247

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