ClinVar Miner

List of variants in gene SLC26A3 reported as likely benign for congenital diarrhea

Included ClinVar conditions (17):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 11
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HGVS dbSNP gnomAD frequency
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.2258A>G (p.Asn753Ser) rs35342296 0.00878
NM_000111.3(SLC26A3):c.1529C>T (p.Thr510Met) rs60147601 0.00777
NM_000111.3(SLC26A3):c.1314C>T (p.Ser438=) rs117703371 0.00462
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.972-14A>C rs188133558 0.00029
NM_000111.3(SLC26A3):c.590G>A (p.Arg197Gln) rs201844799 0.00017
NM_000111.3(SLC26A3):c.1234-17dup rs139350060
NM_000111.3(SLC26A3):c.2169G>C (p.Lys723Asn) rs142908255

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