ClinVar Miner

List of variants reported as benign for congenital secretory chloride diarrhea 1 by Illumina Laboratory Services, Illumina

Included ClinVar conditions (1):
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Total variants: 12
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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.203G>A (p.Arg68Gln) rs10280704 0.01252
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.2092G>C (p.Glu698Gln) rs138002384 0.00264
NM_000111.3(SLC26A3):c.1661G>A (p.Arg554Gln) rs2301635 0.00056
NM_000111.3(SLC26A3):c.357C>A (p.Phe119Leu) rs73419912
NM_000111.3(SLC26A3):c.357C>T (p.Phe119=) rs73419912

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