ClinVar Miner

List of variants studied for secretory diarrhea by Mendelics

Included ClinVar conditions (8):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 16
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HGVS dbSNP gnomAD frequency
NC_000002.12:g.47386975A>G rs539981178 0.00039
NM_000111.3(SLC26A3):c.1696C>T (p.Arg566Ter) rs1018933248 0.00002
NM_002354.3(EPCAM):c.38T>C (p.Leu13Pro) rs776646187 0.00002
NM_001080467.3(MYO5B):c.2003+2T>A rs727505394 0.00001
NM_001080467.3(MYO5B):c.617T>C (p.Ile206Thr) rs1166138315 0.00001
NM_001080467.3(MYO5B):c.656G>A (p.Arg219His) rs1053713532 0.00001
NM_002354.3(EPCAM):c.76+21G>C rs762123721 0.00001
NC_000002.12:g.47387047CTT[2] rs151274680
NC_000002.12:g.47387064C>T rs796191687
NC_000002.12:g.47387076_47387080dup rs565249366
NC_000002.12:g.47387079_47387080dup rs565249366
NC_000002.12:g.47387080dup rs565249366
NM_000111.3(SLC26A3):c.2024_2026dup (p.Ile675dup) rs121913031
NM_001080467.3(MYO5B):c.2470C>T (p.Arg824Cys) rs777038090
NM_001080467.3(MYO5B):c.3276+5G>A rs727505395
NM_002354.3(EPCAM):c.658-1G>T rs1573400213

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