ClinVar Miner

List of variants reported as benign for Hereditary motor and sensory neuropathy with optic atrophy

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Total variants: 45
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HGVS dbSNP gnomAD frequency
NM_014874.4(MFN2):c.*58A>G rs1042842 0.71104
NM_014874.4(MFN2):c.*896G>C rs3088064 0.55119
NM_014874.3(MFN2):c.-212T>C rs2180183 0.53102
NM_014874.3(MFN2):c.-367A>G rs2236054 0.52635
NM_014874.4(MFN2):c.2204+15T>C rs77262016 0.07571
NM_014874.4(MFN2):c.*1488C>T rs11554507 0.05161
NM_014874.4(MFN2):c.*912C>T rs14305 0.04860
NM_014874.4(MFN2):c.1569C>T (p.Ser523=) rs1042837 0.04459
NM_014874.4(MFN2):c.*1100A>G rs41278638 0.04352
NM_014874.4(MFN2):c.*1161C>A rs115706485 0.02302
NM_014874.4(MFN2):c.*1576C>T rs78523898 0.02185
NM_014874.4(MFN2):c.*730C>T rs112550280 0.02163
NM_014874.4(MFN2):c.*231G>A rs41278636 0.01666
NM_014874.4(MFN2):c.*777T>C rs112854268 0.01628
NM_014874.3(MFN2):c.-249T>A rs2180182 0.01549
NM_014874.3(MFN2):c.-287C>T rs2180181 0.01549
NM_014874.4(MFN2):c.2205-13C>A rs76020240 0.01362
NM_014874.4(MFN2):c.*304A>G rs80118679 0.00841
NM_014874.4(MFN2):c.957C>T (p.Gly319=) rs41278632 0.00690
NM_014874.4(MFN2):c.2113G>A (p.Val705Ile) rs142271930 0.00621
NM_014874.4(MFN2):c.744C>T (p.Leu248=) rs61733205 0.00591
NM_014874.4(MFN2):c.*1034C>T rs56333319 0.00427
NM_014874.4(MFN2):c.975C>T (p.Gly325=) rs141475476 0.00357
NM_014874.4(MFN2):c.*1830C>T rs74609163 0.00341
NM_014874.4(MFN2):c.165C>T (p.Thr55=) rs77458527 0.00106
NM_014874.4(MFN2):c.150C>A (p.Ile50=) rs78841746 0.00089
NM_014874.4(MFN2):c.891C>T (p.Ala297=) rs11554508 0.00087
NM_014874.4(MFN2):c.1452G>A (p.Thr484=) rs150043585 0.00083
NM_014874.4(MFN2):c.*1546G>A rs3737960 0.00074
NM_014874.4(MFN2):c.-4-13G>T rs373679523 0.00060
NM_014874.4(MFN2):c.1495+9C>T rs375494746 0.00059
NM_014874.4(MFN2):c.-161G>A rs140094248 0.00014
NM_014874.4(MFN2):c.474+4A>G rs141974160 0.00014
NM_014874.4(MFN2):c.*26G>A rs374800481 0.00011
NM_014874.4(MFN2):c.*1706T>G rs543365043 0.00010
NM_014874.4(MFN2):c.179C>T (p.Thr60Met) rs138345244 0.00005
NM_014874.4(MFN2):c.176-7C>T rs374055101 0.00004
NM_014874.4(MFN2):c.522T>C (p.His174=) rs762789747 0.00004
NM_014874.4(MFN2):c.*1562G>A rs551566332 0.00003
NM_014874.4(MFN2):c.*226C>T rs184254413 0.00001
NM_014874.4(MFN2):c.1806C>T (p.Ser602=) rs201258935 0.00001
NM_014874.4(MFN2):c.*1258G>A rs116156978
NM_014874.4(MFN2):c.-80C>T rs7538183
NM_014874.4(MFN2):c.1920C>G (p.Leu640=) rs141468012
NM_014874.4(MFN2):c.1950G>A (p.Leu650=) rs772030424

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