ClinVar Miner

List of variants studied for secretory diarrhea by 3billion, Medical Genetics

Included ClinVar conditions (8):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_001080467.3(MYO5B):c.4240G>A (p.Glu1414Lys) rs76213287 0.00039
NM_004174.4(SLC9A3):c.2087A>G (p.Asn696Ser) rs372062509 0.00009
NM_004174.4(SLC9A3):c.931G>A (p.Ala311Thr) rs201704801 0.00007
NM_000111.3(SLC26A3):c.2063-1G>T rs386833471 0.00004
NM_002354.3(EPCAM):c.518G>A (p.Arg173His) rs771569331 0.00003
NM_000111.3(SLC26A3):c.1307A>G (p.Gln436Arg) rs1203528953
NM_000111.3(SLC26A3):c.1511A>C (p.Gln504Pro)
NM_000111.3(SLC26A3):c.559G>T (p.Gly187Ter) rs121913032
NM_001080467.3(MYO5B):c.-93C>T rs1007521035
NM_001080467.3(MYO5B):c.284_285del (p.Glu95fs) rs2144390075
NM_004174.4(SLC9A3):c.445G>A (p.Val149Met)
NM_021102.4(SPINT2):c.593-2_593del rs2146281066

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