ClinVar Miner

List of variants in gene SLC5A1 reported as benign for digestive system disorder

Included ClinVar conditions (605):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 39
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HGVS dbSNP gnomAD frequency
NM_000343.4(SLC5A1):c.*2257A>G rs5753868 0.92649
NM_000343.4(SLC5A1):c.*706C>T rs1056444 0.58787
NM_000343.4(SLC5A1):c.1129+7T>G rs5998233 0.47147
NM_000343.4(SLC5A1):c.*1804T>C rs17683807 0.22133
NM_000343.4(SLC5A1):c.*2245C>T rs9621386 0.14372
NM_000343.4(SLC5A1):c.1845C>G (p.His615Gln) rs33954001 0.04760
NM_000343.4(SLC5A1):c.1275C>T (p.Ala425=) rs17683448 0.04560
NM_000343.4(SLC5A1):c.1938C>T (p.Asn646=) rs33954397 0.04560
NM_000343.4(SLC5A1):c.1231G>A (p.Ala411Thr) rs17683430 0.04557
NM_000343.4(SLC5A1):c.152A>G (p.Asn51Ser) rs17683011 0.04555
NM_000343.4(SLC5A1):c.1836A>G (p.Leu612=) rs17683704 0.04554
NM_000343.4(SLC5A1):c.1899G>A (p.Thr633=) rs33943816 0.04197
NM_000343.4(SLC5A1):c.*902T>G rs16989883 0.02647
NM_000343.4(SLC5A1):c.*1508C>A rs8142324 0.01304
NM_000343.4(SLC5A1):c.*795G>T rs117904039 0.01237
NM_000343.4(SLC5A1):c.6C>T (p.Asp2=) rs33973317 0.01145
NM_000343.3(SLC5A1):c.-170C>T rs142248518 0.01139
NM_000343.4(SLC5A1):c.1666-5T>C rs33968460 0.01076
NM_000343.4(SLC5A1):c.*2244C>T rs114700055 0.01052
NM_000343.4(SLC5A1):c.1092C>T (p.Ile364=) rs33915456 0.00975
NM_000343.4(SLC5A1):c.50T>C (p.Val17Ala) rs33951240 0.00787
NM_000343.4(SLC5A1):c.1130-9C>T rs33914280 0.00761
NM_000343.4(SLC5A1):c.*1432G>T rs28540121 0.00663
NM_000343.4(SLC5A1):c.*2275C>T rs144145176 0.00438
NM_000343.4(SLC5A1):c.35C>T (p.Ala12Val) rs150288967 0.00086
NM_000343.4(SLC5A1):c.1359C>T (p.Phe453=) rs139774349 0.00053
NM_000343.4(SLC5A1):c.*400C>T rs117362976 0.00052
NM_000343.4(SLC5A1):c.1200C>T (p.Ser400=) rs142046439 0.00027
NM_000343.4(SLC5A1):c.744C>T (p.Asn248=) rs185126699 0.00026
NM_000343.4(SLC5A1):c.36G>A (p.Ala12=) rs148720069 0.00014
NM_000343.4(SLC5A1):c.97G>A (p.Val33Ile) rs33918436 0.00011
NM_000343.4(SLC5A1):c.*771C>T rs550005508 0.00003
NM_000343.4(SLC5A1):c.373-13G>A rs201398293 0.00001
NM_000343.4(SLC5A1):c.373-9C>T rs199690019 0.00001
NM_000343.4(SLC5A1):c.*1940G>A rs117112619
NM_000343.4(SLC5A1):c.1130-10_1130-8del rs770678836
NM_000343.4(SLC5A1):c.1771+3G>A
NM_000343.4(SLC5A1):c.1772-6G>A rs201685531
NM_000343.4(SLC5A1):c.885+20G>A

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