ClinVar Miner

List of variants studied for secretory diarrhea by Aleixo Muise Laboratory, Hospital For Sick Children

Included ClinVar conditions (8):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 31
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HGVS dbSNP gnomAD frequency
NM_001080467.3(MYO5B):c.946G>A (p.Gly316Arg) rs753558336 0.00003
NM_002354.3(EPCAM):c.491+1G>A rs606231203 0.00002
NM_004174.4(SLC9A3):c.932+1G>A rs144524702 0.00002
NM_004174.4(SLC9A3):c.1145G>A (p.Arg382Gln) rs766076524 0.00001
NM_001080467.3(MYO5B):c.1462del (p.Ile488fs)
NM_001080467.3(MYO5B):c.1613T>C (p.Phe538Ser)
NM_001080467.3(MYO5B):c.1648A>T (p.Ile550Phe)
NM_001080467.3(MYO5B):c.1744G>C (p.Ala582Pro)
NM_001080467.3(MYO5B):c.1906-1G>A
NM_001080467.3(MYO5B):c.266T>C (p.Leu89Ser)
NM_001080467.3(MYO5B):c.4036C>T (p.Gln1346Ter) rs370647174
NM_001080467.3(MYO5B):c.4082T>C (p.Leu1361Pro)
NM_001080467.3(MYO5B):c.4168C>T (p.Gln1390Ter)
NM_001080467.3(MYO5B):c.4852+3A>T
NM_001080467.3(MYO5B):c.487G>A (p.Gly163Arg)
NM_001080467.3(MYO5B):c.947G>T (p.Gly316Val) rs971419104
NM_002354.3(EPCAM):c.227C>G (p.Ser76Ter)
NM_002354.3(EPCAM):c.377G>A (p.Arg126Lys)
NM_002354.3(EPCAM):c.492-2A>G rs606231281
NM_002354.3(EPCAM):c.499dup (p.Gln167fs) rs606231204
NM_002354.3(EPCAM):c.540del (p.Phe180fs)
NM_002354.3(EPCAM):c.579del (p.Ile193fs)
NM_002354.3(EPCAM):c.589C>T (p.Gln197Ter)
NM_002354.3(EPCAM):c.83_88del (p.Val28_Cys29del)
NM_004174.4(SLC9A3):c.1052dup (p.Met352fs)
NM_004174.4(SLC9A3):c.1214A>G (p.Asp405Gly)
NM_004174.4(SLC9A3):c.1446+1delinsCA
NM_004174.4(SLC9A3):c.1745del (p.Ser582fs) rs869320692
NM_004174.4(SLC9A3):c.650C>T (p.Ser217Leu)
NM_004174.4(SLC9A3):c.818C>T (p.Ser273Leu)
NM_021102.4(SPINT2):c.342del (p.Arg115fs)

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