ClinVar Miner

List of variants studied for Hereditary motor and sensory neuropathy with optic atrophy by Illumina Clinical Services Laboratory,Illumina

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Total variants: 98
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HGVS dbSNP
NC_000001.11:g.11980166G>A
NM_001127660.1(MFN2):c.-214C>G
NM_001127660.1(MFN2):c.-237G>A
NM_014874.3(MFN2):c.*1068C>T rs886045229
NM_014874.3(MFN2):c.*1100A>G rs41278638
NM_014874.3(MFN2):c.*1153C>T rs542684406
NM_014874.3(MFN2):c.*1161C>A rs115706485
NM_014874.3(MFN2):c.*1258G>A rs116156978
NM_014874.3(MFN2):c.*1276G>A rs766342161
NM_014874.3(MFN2):c.*1295G>A rs763783578
NM_014874.3(MFN2):c.*1392A>G rs886045230
NM_014874.3(MFN2):c.*1488C>T rs11554507
NM_014874.3(MFN2):c.*1539G>A rs557643473
NM_014874.3(MFN2):c.*1546G>A rs3737960
NM_014874.3(MFN2):c.*1562G>A rs551566332
NM_014874.3(MFN2):c.*1576C>T rs78523898
NM_014874.3(MFN2):c.*1706T>G rs543365043
NM_014874.3(MFN2):c.*231G>A rs41278636
NM_014874.3(MFN2):c.*256G>A rs557772799
NM_014874.3(MFN2):c.*297T>A rs886045224
NM_014874.3(MFN2):c.*36G>A rs377468070
NM_014874.3(MFN2):c.*413C>T rs558887681
NM_014874.3(MFN2):c.*57C>T rs886045221
NM_014874.3(MFN2):c.*58A>G rs1042842
NM_014874.3(MFN2):c.*730C>T rs112550280
NM_014874.3(MFN2):c.*777T>C rs112854268
NM_014874.3(MFN2):c.*864T>C rs886045226
NM_014874.3(MFN2):c.*870C>T rs886045227
NM_014874.3(MFN2):c.*896G>C rs3088064
NM_014874.3(MFN2):c.*912C>T rs14305
NM_014874.3(MFN2):c.*946C>A rs765105334
NM_014874.3(MFN2):c.-149-15T>G rs114306601
NM_014874.3(MFN2):c.-161G>A rs140094248
NM_014874.3(MFN2):c.-212T>C rs2180183
NM_014874.3(MFN2):c.-217C>A rs886045218
NM_014874.3(MFN2):c.-249T>A rs2180182
NM_014874.3(MFN2):c.-287C>T rs2180181
NM_014874.3(MFN2):c.-328T>A rs886045217
NM_014874.3(MFN2):c.-344C>T rs886045216
NM_014874.3(MFN2):c.-367A>G rs2236054
NM_014874.3(MFN2):c.-4-13G>T rs373679523
NM_014874.3(MFN2):c.1269G>A (p.Thr423=) rs145994616
NM_014874.3(MFN2):c.1403G>A (p.Arg468His) rs138382758
NM_014874.3(MFN2):c.1452G>A (p.Thr484=) rs150043585
NM_014874.3(MFN2):c.1495+9C>T rs375494746
NM_014874.3(MFN2):c.150C>A (p.Ile50=) rs78841746
NM_014874.3(MFN2):c.153G>T (p.Gln51His) rs886045219
NM_014874.3(MFN2):c.1569C>T (p.Ser523=) rs1042837
NM_014874.3(MFN2):c.159C>T (p.Ser53=) rs61733200
NM_014874.3(MFN2):c.1659G>A (p.Val553=) rs886045220
NM_014874.3(MFN2):c.165C>T (p.Thr55=) rs77458527
NM_014874.3(MFN2):c.176-7C>T rs374055101
NM_014874.3(MFN2):c.179C>T (p.Thr60Met) rs138345244
NM_014874.3(MFN2):c.1806C>T (p.Ser602=) rs201258935
NM_014874.3(MFN2):c.1818C>T (p.Gly606=) rs373843969
NM_014874.3(MFN2):c.1920C>G (p.Leu640=) rs141468012
NM_014874.3(MFN2):c.1950G>A (p.Leu650=) rs772030424
NM_014874.3(MFN2):c.1987C>T (p.Arg663Cys) rs369762154
NM_014874.3(MFN2):c.2113G>A (p.Val705Ile) rs142271930
NM_014874.3(MFN2):c.2145C>T (p.Ala715=) rs571011689
NM_014874.3(MFN2):c.2146G>A (p.Ala716Thr) rs144860227
NM_014874.3(MFN2):c.2157G>A (p.Lys719=) rs148441213
NM_014874.3(MFN2):c.2204+15T>C rs77262016
NM_014874.3(MFN2):c.2205-13C>A rs76020240
NM_014874.3(MFN2):c.408A>T (p.Val136=) rs78814413
NM_014874.3(MFN2):c.474+4A>G rs141974160
NM_014874.3(MFN2):c.522T>C (p.His174=) rs762789747
NM_014874.3(MFN2):c.58C>T (p.His20Tyr) rs201715603
NM_014874.3(MFN2):c.744C>T (p.Leu248=) rs61733205
NM_014874.3(MFN2):c.756C>T (p.Asn252=) rs137960129
NM_014874.3(MFN2):c.842G>C (p.Cys281Ser) rs147136530
NM_014874.3(MFN2):c.891C>T (p.Ala297=) rs11554508
NM_014874.3(MFN2):c.892G>A (p.Gly298Arg) rs41278630
NM_014874.3(MFN2):c.898C>T (p.Arg300Cys) rs863224066
NM_014874.3(MFN2):c.957C>T (p.Gly319=) rs41278632
NM_014874.3(MFN2):c.975C>T (p.Gly325=) rs141475476
NM_014874.4(MFN2):c.*1034C>T
NM_014874.4(MFN2):c.*1054C>T
NM_014874.4(MFN2):c.*1222G>A
NM_014874.4(MFN2):c.*131G>A
NM_014874.4(MFN2):c.*1535C>T
NM_014874.4(MFN2):c.*1662T>C
NM_014874.4(MFN2):c.*1763G>A
NM_014874.4(MFN2):c.*1830C>T
NM_014874.4(MFN2):c.*1902C>T
NM_014874.4(MFN2):c.*226C>T
NM_014874.4(MFN2):c.*26G>A
NM_014874.4(MFN2):c.*304A>G
NM_014874.4(MFN2):c.*381C>A
NM_014874.4(MFN2):c.*813G>A
NM_014874.4(MFN2):c.-80C>T
NM_014874.4(MFN2):c.1631A>G (p.His544Arg)
NM_014874.4(MFN2):c.1716+8A>G
NM_014874.4(MFN2):c.1938C>A (p.Val646=)
NM_014874.4(MFN2):c.205G>A (p.Val69Ile)
NM_014874.4(MFN2):c.2204+13C>T
NM_014874.4(MFN2):c.2211A>G (p.Lys737=)
NM_014874.4(MFN2):c.271G>A (p.Val91Met)

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