ClinVar Miner

List of variants in gene SLC26A3 reported as pathogenic for digestive system disorder

Included ClinVar conditions (605):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 18
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HGVS dbSNP gnomAD frequency
NM_000111.3(SLC26A3):c.2063-1G>T rs386833471 0.00004
NM_000111.3(SLC26A3):c.1696C>T (p.Arg566Ter) rs1018933248 0.00002
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.1000G>T (p.Glu334Ter) rs1208952914
NM_000111.3(SLC26A3):c.1306C>T (p.Gln436Ter) rs386833448
NM_000111.3(SLC26A3):c.1386G>A (p.Trp462Ter) rs121913033
NM_000111.3(SLC26A3):c.145_157del (p.Lys49fs) rs386833456
NM_000111.3(SLC26A3):c.1514+1G>A
NM_000111.3(SLC26A3):c.1652del (p.Phe551fs) rs1584403556
NM_000111.3(SLC26A3):c.1679T>A (p.Val560Asp)
NM_000111.3(SLC26A3):c.2024_2026dup (p.Ile675dup) rs121913031
NM_000111.3(SLC26A3):c.371A>T (p.His124Leu) rs121913030
NM_000111.3(SLC26A3):c.392C>T (p.Pro131Leu) rs386833481
NM_000111.3(SLC26A3):c.559G>T (p.Gly187Ter) rs121913032
NM_000111.3(SLC26A3):c.571-1G>T rs386833485
NM_000111.3(SLC26A3):c.735+708_971+1514del
NM_000111.3(SLC26A3):c.951_953del (p.Val318del) rs386833491

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