ClinVar Miner

List of variants reported as benign for congenital diarrhea by Illumina Laboratory Services, Illumina

Included ClinVar conditions (17):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 70
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HGVS dbSNP gnomAD frequency
NM_000111.3(SLC26A3):c.1953T>C (p.Leu651=) rs41669 0.99393
NM_001080467.3(MYO5B):c.376A>G (p.Thr126Ala) rs1815930 0.97586
NM_001080467.3(MYO5B):c.*308C>T rs555879 0.53747
NM_001080467.3(MYO5B):c.2049G>A (p.Val683=) rs2298628 0.48893
NM_001080467.3(MYO5B):c.1545+11T>C rs17715416 0.33063
NM_001080467.3(MYO5B):c.3591C>T (p.Tyr1197=) rs3826579 0.23556
NM_001080467.3(MYO5B):c.3276+11T>C rs2276176 0.22610
NM_001080467.3(MYO5B):c.*965A>T rs72642495 0.20122
NM_000111.3(SLC26A3):c.1299G>A (p.Ala433=) rs3735605 0.13922
NM_001080467.3(MYO5B):c.4464G>A (p.Leu1488=) rs2276170 0.12248
NM_001080467.3(MYO5B):c.2753G>A (p.Arg918His) rs2298624 0.11570
NM_001080467.3(MYO5B):c.*1921G>C rs111319402 0.11314
NM_001080467.3(MYO5B):c.-98C>T rs111999307 0.09556
NM_001080467.3(MYO5B):c.756+6T>C rs16951370 0.09148
NM_001080467.3(MYO5B):c.2004-14T>C rs200222654 0.08496
NM_001080467.3(MYO5B):c.*979G>A rs74515646 0.08075
NM_001080467.3(MYO5B):c.3962G>A (p.Gly1321Glu) rs1942418 0.07389
NM_001080467.3(MYO5B):c.*371T>C rs4127441 0.06808
NM_001080467.3(MYO5B):c.*707T>C rs12457962 0.06804
NM_001080467.3(MYO5B):c.*873G>A rs4638687 0.06800
NM_001080467.3(MYO5B):c.921G>T (p.Lys307Asn) rs17659179 0.04692
NM_001080467.3(MYO5B):c.456-10T>C rs62620046 0.04071
NM_001080467.3(MYO5B):c.3396+9T>C rs75971548 0.03854
NM_000111.3(SLC26A3):c.921T>G (p.Cys307Trp) rs34407351 0.03234
NM_001080467.3(MYO5B):c.1968C>T (p.Arg656=) rs1627232 0.02764
NM_001080467.3(MYO5B):c.1206C>T (p.Asn402=) rs11082795 0.02361
NM_001080467.3(MYO5B):c.*2747A>C rs11876859 0.02257
NM_001080467.3(MYO5B):c.*3273G>A rs9947739 0.02247
NM_001080467.3(MYO5B):c.5062A>G (p.Met1688Val) rs112417235 0.02197
NM_001080467.3(MYO5B):c.5433A>C (p.Leu1811=) rs78657366 0.02050
NM_001080467.3(MYO5B):c.1323-10C>T rs16951326 0.01937
NM_001080467.3(MYO5B):c.28T>G (p.Cys10Gly) rs16951438 0.01776
NM_001080467.3(MYO5B):c.176T>C (p.Leu59Pro) rs78626055 0.01741
NM_001080467.3(MYO5B):c.897G>T (p.Val299=) rs7240377 0.01310
NM_000111.3(SLC26A3):c.203G>A (p.Arg68Gln) rs10280704 0.01252
NM_001080467.3(MYO5B):c.145G>C (p.Glu49Gln) rs141998504 0.01150
NM_001080467.3(MYO5B):c.*1614T>C rs111994054 0.01125
NM_001080467.3(MYO5B):c.2004-15T>C rs764748524 0.01062
NM_001080467.3(MYO5B):c.*1610G>C rs148887718 0.00836
NM_001080467.3(MYO5B):c.1793C>T (p.Pro598Leu) rs75107667 0.00802
NM_001080467.3(MYO5B):c.*1142A>C rs146397214 0.00739
NM_001080467.3(MYO5B):c.*1404T>C rs113054799 0.00736
NM_000111.3(SLC26A3):c.*386G>A rs183578733 0.00733
NM_001080467.3(MYO5B):c.*1272A>C rs114133687 0.00732
NM_001080467.3(MYO5B):c.*2645T>G rs140855200 0.00732
NM_001080467.3(MYO5B):c.5048A>G (p.Lys1683Arg) rs9950781 0.00683
NM_001080467.3(MYO5B):c.*3368G>C rs9947614 0.00671
NM_001080467.3(MYO5B):c.*2283T>C rs59318525 0.00667
NM_001080467.3(MYO5B):c.3432G>A (p.Thr1144=) rs61737443 0.00628
NM_000111.3(SLC26A3):c.996C>T (p.Asp332=) rs35576676 0.00621
NM_001080467.3(MYO5B):c.4145C>T (p.Thr1382Met) rs145598498 0.00607
NM_001080467.3(MYO5B):c.3363C>T (p.Ile1121=) rs28637129 0.00589
NM_000111.3(SLC26A3):c.1802T>C (p.Ile601Thr) rs35776303 0.00583
NM_000111.3(SLC26A3):c.378C>T (p.Ser126=) rs142349142 0.00575
NM_001080467.3(MYO5B):c.4315+9G>T rs113660613 0.00392
NM_000111.3(SLC26A3):c.2092G>C (p.Glu698Gln) rs138002384 0.00264
NM_001080467.3(MYO5B):c.*2293T>G rs57818618 0.00156
NM_001080467.3(MYO5B):c.*958T>C rs143115573 0.00108
NM_000111.3(SLC26A3):c.1661G>A (p.Arg554Gln) rs2301635 0.00056
NM_001080467.3(MYO5B):c.*400G>A rs144380641 0.00048
NM_001080467.3(MYO5B):c.886A>G (p.Ile296Val) rs79714279 0.00036
NM_001080467.3(MYO5B):c.2228G>A (p.Arg743His) rs368212890 0.00011
NM_001080467.3(MYO5B):c.2571+14C>T rs200805961 0.00001
NM_000111.3(SLC26A3):c.357C>A (p.Phe119Leu) rs73419912
NM_000111.3(SLC26A3):c.357C>T (p.Phe119=) rs73419912
NM_001080467.3(MYO5B):c.*1671G>T rs9959610
NM_001080467.3(MYO5B):c.*2240A>C rs607552
NM_001080467.3(MYO5B):c.*99A>C rs11874243
NM_001080467.3(MYO5B):c.4315+5G>C rs488890
NM_001080467.3(MYO5B):c.996C>A (p.Ile332=) rs16951352

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