ClinVar Miner

List of variants reported as likely benign for congenital secretory diarrhea

Included ClinVar conditions (8):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 45
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HGVS dbSNP gnomAD frequency
NM_001080467.3(MYO5B):c.28T>G (p.Cys10Gly) rs16951438 0.01776
NM_000111.3(SLC26A3):c.889-6T>C rs17154430 0.01616
NM_000111.3(SLC26A3):c.241A>G (p.Ile81Val) rs116793431 0.01309
NM_000111.3(SLC26A3):c.2258A>G (p.Asn753Ser) rs35342296 0.00878
NM_000111.3(SLC26A3):c.1529C>T (p.Thr510Met) rs60147601 0.00777
NM_001080467.3(MYO5B):c.3432G>A (p.Thr1144=) rs61737443 0.00628
NM_001080467.3(MYO5B):c.2076T>C (p.Ala692=) rs200559863 0.00470
NM_000111.3(SLC26A3):c.1314C>T (p.Ser438=) rs117703371 0.00462
NM_001080467.3(MYO5B):c.*2538G>A rs183150275 0.00425
NM_001080467.3(MYO5B):c.2203-7T>C rs151267350 0.00376
NM_001080467.3(MYO5B):c.5395-6C>T rs140275825 0.00317
NM_002354.3(EPCAM):c.491+19A>T rs114475602 0.00306
NM_001080467.3(MYO5B):c.1057-4A>G rs138582195 0.00231
NM_001080467.3(MYO5B):c.4481C>T (p.Ser1494Leu) rs139632666 0.00202
NM_000111.3(SLC26A3):c.1273G>A (p.Val425Ile) rs146161125 0.00196
NM_001080467.3(MYO5B):c.2343G>C (p.Lys781Asn) rs61737448 0.00187
NM_001080467.3(MYO5B):c.3828C>T (p.Leu1276=) rs201760142 0.00175
NM_000111.3(SLC26A3):c.*113T>C rs192893142 0.00168
NM_001080467.3(MYO5B):c.167G>T (p.Arg56Leu) rs138743872 0.00162
NM_001080467.3(MYO5B):c.1031G>A (p.Arg344His) rs189027956 0.00153
NM_001080467.3(MYO5B):c.4674C>G (p.His1558Gln) rs186428920 0.00105
NM_001080467.3(MYO5B):c.3031G>A (p.Asp1011Asn) rs201592338 0.00103
NM_001080467.3(MYO5B):c.*1728A>T rs138593222 0.00051
NM_001080467.3(MYO5B):c.2415-6C>G rs2298625 0.00041
NC_000002.12:g.47386975A>G rs539981178 0.00039
NM_001080467.3(MYO5B):c.4240G>A (p.Glu1414Lys) rs76213287 0.00039
NM_000111.3(SLC26A3):c.972-14A>C rs188133558 0.00029
NM_001080467.3(MYO5B):c.*2571A>G rs190516330 0.00027
NM_001080467.3(MYO5B):c.1057-15C>T rs149299559 0.00022
NM_000111.3(SLC26A3):c.590G>A (p.Arg197Gln) rs201844799 0.00017
NM_004963.4(GUCY2C):c.2384G>A (p.Arg795Lys) rs147296490 0.00016
NM_001080467.3(MYO5B):c.2228G>A (p.Arg743His) rs368212890 0.00011
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_001080467.3(MYO5B):c.2702G>A (p.Arg901Gln) rs199782770 0.00006
NM_001080467.3(MYO5B):c.4764C>T (p.Thr1588=) rs747139348 0.00005
NM_002354.3(EPCAM):c.342C>T (p.Ser114=) rs200495968 0.00004
NM_004174.4(SLC9A3):c.370G>A (p.Val124Met) rs566685003 0.00004
NM_001080467.3(MYO5B):c.1322+11C>T rs142044259 0.00003
NM_002354.3(EPCAM):c.518G>A (p.Arg173His) rs771569331 0.00003
NM_000111.3(SLC26A3):c.1234-17dup rs139350060
NM_000111.3(SLC26A3):c.2169G>C (p.Lys723Asn) rs142908255
NM_001080467.3(MYO5B):c.-93C>T rs1007521035
NM_002354.3(EPCAM):c.492-8C>T
NM_004174.4(SLC9A3):c.445G>A (p.Val149Met)

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