ClinVar Miner

List of variants studied for secretory diarrhea by Genome-Nilou Lab

Included ClinVar conditions (8):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 21
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HGVS dbSNP gnomAD frequency
NM_000111.3(SLC26A3):c.1953T>C (p.Leu651=) rs41669 0.99393
NM_001080467.3(MYO5B):c.376A>G (p.Thr126Ala) rs1815930 0.97586
NM_004174.4(SLC9A3):c.1443G>C (p.Gly481=) rs9885312 0.89494
NM_004174.4(SLC9A3):c.1517+70A>G rs6872510 0.88427
NM_004174.4(SLC9A3):c.2395T>C (p.Cys799Arg) rs2247114 0.85225
NM_004174.4(SLC9A3):c.1891-37G>C rs2244240 0.85166
NM_004174.4(SLC9A3):c.1647+46T>G rs890986 0.83861
NM_001080467.3(MYO5B):c.1905+28T>C rs1790797 0.72377
NM_001080467.3(MYO5B):c.1668+23C>T rs1787299 0.58697
NM_002354.3(EPCAM):c.344T>C (p.Met115Thr) rs1126497 0.58219
NM_001080467.3(MYO5B):c.2049G>A (p.Val683=) rs2298628 0.48893
NM_001080467.3(MYO5B):c.3163_3165dup (p.Leu1055dup) rs397841722 0.31640
NM_001080467.3(MYO5B):c.3603+33A>G rs3826580 0.23559
NM_001080467.3(MYO5B):c.3591C>T (p.Tyr1197=) rs3826579 0.23556
NM_001080467.3(MYO5B):c.3276+11T>C rs2276176 0.22610
NM_001080467.3(MYO5B):c.3396+9T>C rs75971548 0.03854
NM_004174.4(SLC9A3):c.1233C>T (p.Tyr411=) rs143144929 0.00417
NM_001080467.3(MYO5B):c.4315+5G>C rs488890
NM_004174.4(SLC9A3):c.1356+10A>G rs3777230
NM_004174.4(SLC9A3):c.1647+68dup rs5865334
NM_004174.4(SLC9A3):c.514+58C>G rs11746373

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