ClinVar Miner

List of variants reported as benign for mitochondrial neurogastrointestinal encephalomyopathy

Included ClinVar conditions (11):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 28
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HGVS dbSNP gnomAD frequency
NM_005138.3(SCO2):c.633A>C (p.Ala211=) rs12148 0.63421
NM_002693.3(POLG):c.2071-22T>C rs2072267 0.56891
NM_001953.5(TYMP):c.516+27A>G rs470119 0.54142
NM_005138.3(SCO2):c.-78G>C rs131806 0.51847
NM_001953.5(TYMP):c.972C>T (p.Ala324=) rs131804 0.51130
NM_002693.3(POLG):c.3483-19T>G rs2307438 0.44213
NM_002693.3(POLG):c.3105-11T>C rs2302084 0.32855
NM_002693.3(POLG):c.3105-36A>G rs2246900 0.31986
NM_001953.5(TYMP):c.1284T>A (p.Gly428=) rs1138404 0.14075
NM_001953.5(TYMP):c.1412C>T (p.Ser471Leu) rs11479 0.09354
NM_005138.3(SCO2):c.-18G>A rs74479613 0.09346
NM_002693.3(POLG):c.3708G>T (p.Gln1236His) rs3087374 0.06272
NM_001953.5(TYMP):c.1393G>A (p.Ala465Thr) rs112723255 0.04015
NM_001953.5(TYMP):c.831G>A (p.Leu277=) rs8141558 0.03453
NM_002693.3(POLG):c.3428A>G (p.Glu1143Gly) rs2307441 0.02704
NM_001953.5(TYMP):c.204C>T (p.Gly68=) rs34375653 0.01755
NM_001953.5(TYMP):c.214+13G>A rs74624637 0.00960
NM_002693.3(POLG):c.1586-5del rs2307434 0.00891
NM_001953.5(TYMP):c.735G>A (p.Gln245=) rs139223629 0.00222
NM_001953.5(TYMP):c.242G>A (p.Arg81Gln) rs143789597 0.00135
NM_001953.4(TYMP):c.929-6_929-3del rs201685922
NM_001953.5(TYMP):c.194G>A (p.Ser65Asn) rs570047465
NM_001953.5(TYMP):c.766-53C>T rs2148679059
NM_001953.5(TYMP):c.966T>C (p.Thr322=) rs1064792856
NM_002693.3:c.2734+39_2734+40insAGGT rs2152061162
NM_005138.3(SCO2):c.59G>C (p.Arg20Pro) rs140523
c.1069A>G
c.972T>C

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