ClinVar Miner

List of variants reported as benign for hereditary optic atrophy by Genome-Nilou Lab

Included ClinVar conditions (34):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 85
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HGVS dbSNP gnomAD frequency
NM_014263.4(YME1L1):c.1720-36G>C rs2480718 0.99189
NM_152296.5(ATP1A3):c.666T>G (p.Thr222=) rs2217342 0.93139
NM_130837.3(OPA1):c.1035+4T>C rs166850 0.88294
NM_014263.4(YME1L1):c.*45C>T rs9833 0.85438
NM_006796.3(AFG3L2):c.1650A>G (p.Glu550=) rs11553521 0.77624
NM_025136.4(OPA3):c.231T>C (p.Ala77=) rs3826860 0.70508
NM_152296.5(ATP1A3):c.*39C>G rs919390 0.69962
NM_006796.3(AFG3L2):c.1389G>A (p.Leu463=) rs11080572 0.67857
NM_006796.3(AFG3L2):c.752+6C>T rs8097342 0.67671
NM_130837.3(OPA1):c.2274T>C (p.Ala758=) rs9851685 0.50117
NM_012062.5(DNM1L):c.1674+36T>A rs4506737 0.40113
NM_032730.5(RTN4IP1):c.114T>A (p.Pro38=) rs1987623 0.39946
NM_001098.3(ACO2):c.836-54T>C rs203320 0.39646
NM_001098.3(ACO2):c.836-118C>T rs9619974 0.36682
NM_001098.3(ACO2):c.670C>T (p.Leu224=) rs1799932 0.36650
NM_032730.5(RTN4IP1):c.495+27A>G rs1870867 0.36066
NM_001098.3(ACO2):c.1032+17C>T rs203319 0.33591
NM_001098.3(ACO2):c.192A>C (p.Thr64=) rs137831 0.29094
NM_006796.3(AFG3L2):c.*28G>C rs1129115 0.28281
NM_014263.4(YME1L1):c.2008-7G>A rs11015538 0.23338
NM_014263.4(YME1L1):c.691+16A>G rs2275752 0.22144
NM_001098.3(ACO2):c.1370+48A>G rs12484694 0.18477
NM_012062.5(DNM1L):c.252G>A (p.Gly84=) rs2272238 0.15635
NM_012062.5(DNM1L):c.*21G>C rs1059422 0.15548
NM_012062.5(DNM1L):c.*22A>T rs3200103 0.15544
NM_012062.5(DNM1L):c.120A>C (p.Ser40=) rs10844308 0.14357
NM_012062.5(DNM1L):c.918A>G (p.Thr306=) rs10844318 0.14349
NM_014263.4(YME1L1):c.39A>G (p.Thr13=) rs11538750 0.07544
NM_025136.3(OPA3):c.-75G>A rs45598532 0.06189
NM_025136.4(OPA3):c.142+69G>C rs62111684 0.03152
NM_025136.4(OPA3):c.-38A>G rs45527139 0.02241
NM_152296.5(ATP1A3):c.*106T>C rs180885057 0.01288
NM_152296.5(ATP1A3):c.2319T>C (p.Asn773=) rs61733017 0.01238
NM_152296.5(ATP1A3):c.2610C>T (p.Pro870=) rs35272495 0.00802
NM_152296.5(ATP1A3):c.2487G>A (p.Pro829=) rs45606534 0.00759
NM_014263.4(YME1L1):c.541-16T>C rs2275751 0.00418
NM_152296.5(ATP1A3):c.2819+20G>A rs148592392 0.00279
NM_152296.5(ATP1A3):c.2334G>A (p.Thr778=) rs145374789 0.00243
NM_152296.5(ATP1A3):c.2921+11C>T rs190570469 0.00230
NM_130837.3(OPA1):c.43C>A (p.Gln15Lys) rs75414918 0.00229
NM_152296.5(ATP1A3):c.1944-20G>T rs200665663 0.00216
NM_130837.3(OPA1):c.321G>A (p.Ser107=) rs117888848 0.00212
NM_152296.5(ATP1A3):c.154-5C>G rs191645384 0.00188
NM_152296.5(ATP1A3):c.2976C>T (p.Asp992=) rs146199765 0.00177
NM_152296.5(ATP1A3):c.1943+12A>T rs201197776 0.00146
NM_152296.5(ATP1A3):c.816G>A (p.Thr272=) rs149898088 0.00140
NM_152296.5(ATP1A3):c.357C>T (p.Asn119=) rs143547136 0.00108
NM_152296.5(ATP1A3):c.1260C>T (p.Arg420=) rs113909283 0.00080
NM_152296.5(ATP1A3):c.*315G>A rs571857150 0.00073
NM_152296.5(ATP1A3):c.2838C>T (p.Phe946=) rs141421692 0.00065
NM_152296.5(ATP1A3):c.192G>A (p.Arg64=) rs146053862 0.00061
NM_152296.5(ATP1A3):c.2653G>A (p.Val885Ile) rs149600313 0.00058
NM_152296.5(ATP1A3):c.994-3C>G rs377256877 0.00046
NM_152296.5(ATP1A3):c.1192+6C>T rs367771319 0.00026
NM_152296.5(ATP1A3):c.1193-4C>G rs200111818 0.00023
NM_152296.5(ATP1A3):c.1695C>T (p.Asp565=) rs375255226 0.00021
NM_152296.5(ATP1A3):c.2419-7C>T rs187436315 0.00016
NM_152296.5(ATP1A3):c.6+3A>G rs369853936 0.00016
NM_152296.5(ATP1A3):c.1500C>T (p.Ala500=) rs146606627 0.00013
NM_152296.5(ATP1A3):c.147T>C (p.Cys49=) rs376960579 0.00011
NM_152296.5(ATP1A3):c.2226C>T (p.Asp742=) rs146600566 0.00011
NM_152296.5(ATP1A3):c.288C>T (p.Ile96=) rs142806181 0.00011
NM_152296.5(ATP1A3):c.2559C>T (p.Leu853=) rs369555293 0.00010
NM_152296.5(ATP1A3):c.1131A>G (p.Thr377=) rs143242360 0.00009
NM_152296.5(ATP1A3):c.1776G>A (p.Ala592=) rs2288507 0.00009
NM_152296.5(ATP1A3):c.2367G>A (p.Pro789=) rs372737275 0.00009
NM_152296.5(ATP1A3):c.1086C>T (p.Thr362=) rs186453162 0.00007
NM_152296.5(ATP1A3):c.1281G>A (p.Gln427=) rs116979196 0.00007
NM_152296.5(ATP1A3):c.2886C>T (p.Pro962=) rs141412861 0.00006
NM_152296.5(ATP1A3):c.994-4C>G rs373698149 0.00005
NM_152296.5(ATP1A3):c.1134C>T (p.Val378=) rs180710845 0.00004
NM_152296.5(ATP1A3):c.1527C>T (p.Ser509=) rs199625170 0.00004
NM_152296.5(ATP1A3):c.1974C>T (p.Thr658=) rs145869619 0.00004
NM_152296.5(ATP1A3):c.1192+3G>A rs374542368 0.00002
NM_152296.5(ATP1A3):c.1605C>T (p.Leu535=) rs148097195 0.00002
NM_152296.5(ATP1A3):c.207A>T (p.Ala69=) rs200616931 0.00002
NM_152296.5(ATP1A3):c.741G>C (p.Val247=) rs767234141 0.00002
NM_152296.5(ATP1A3):c.1080G>A (p.Thr360=) rs370511776 0.00001
NM_152296.5(ATP1A3):c.1905C>T (p.Ala635=) rs781822752 0.00001
NM_152296.5(ATP1A3):c.363C>T (p.Tyr121=) rs373180830 0.00001
NM_001098.3(ACO2):c.174-52G>T rs2076199
NM_006796.3(AFG3L2):c.753-55T>C rs7407640
NM_152296.5(ATP1A3):c.*247C>T rs565195548
NM_152296.5(ATP1A3):c.705T>G (p.Phe235Leu) rs782230953
NM_152296.5(ATP1A3):c.909C>T (p.Leu303=) rs782266448

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