ClinVar Miner

List of variants studied for secretory diarrhea by Revvity Omics, Revvity

Included ClinVar conditions (8):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_004174.4(SLC9A3):c.579G>A (p.Pro193=) rs542245214 0.00093
NM_004174.4(SLC9A3):c.1212T>C (p.Ile404=) rs201331870 0.00007
NM_004174.4(SLC9A3):c.370G>A (p.Val124Met) rs566685003 0.00004
NM_000111.3(SLC26A3):c.1728G>C (p.Arg576Ser)
NM_000111.3(SLC26A3):c.559G>T (p.Gly187Ter) rs121913032
NM_021102.4(SPINT2):c.122C>T (p.Ser41Leu)

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