ClinVar Miner

List of variants reported as uncertain significance for Myopathy, proximal, and ophthalmoplegia by Revvity Omics, Revvity

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Total variants: 106
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HGVS dbSNP gnomAD frequency
NM_017534.6(MYH2):c.3884G>A (p.Arg1295His) rs143341678 0.00063
NM_017534.6(MYH2):c.2823G>T (p.Glu941Asp) rs138206136 0.00053
NM_017534.6(MYH2):c.5472+3G>T rs200691436 0.00052
NM_017534.6(MYH2):c.5820A>G (p.Glu1940=) rs140527143 0.00052
NM_017534.6(MYH2):c.5003G>A (p.Arg1668Gln) rs143022667 0.00048
NM_017534.6(MYH2):c.1898-3C>T rs370752980 0.00044
NM_017534.6(MYH2):c.332C>T (p.Ala111Val) rs140468333 0.00040
NM_017534.6(MYH2):c.4583G>A (p.Arg1528His) rs142934668 0.00040
NM_017534.6(MYH2):c.1082A>T (p.His361Leu) rs139478967 0.00026
NM_017534.6(MYH2):c.4442G>A (p.Arg1481His) rs199751037 0.00022
NM_017534.6(MYH2):c.4304T>C (p.Met1435Thr) rs139691540 0.00019
NM_017534.6(MYH2):c.3728C>T (p.Thr1243Met) rs150829316 0.00017
NM_017534.6(MYH2):c.1334G>A (p.Arg445His) rs201040489 0.00015
NM_017534.6(MYH2):c.1300G>A (p.Val434Ile) rs143204063 0.00014
NM_017534.6(MYH2):c.1174A>G (p.Ser392Gly) rs139212712 0.00013
NM_017534.6(MYH2):c.2565G>A (p.Met855Ile) rs184494954 0.00011
NM_017534.6(MYH2):c.3615T>C (p.Ser1205=) rs751186949 0.00011
NM_017534.6(MYH2):c.1566C>T (p.Ala522=) rs142383679 0.00010
NM_017534.6(MYH2):c.2266G>A (p.Asp756Asn) rs202198533 0.00010
NM_017534.6(MYH2):c.5264G>A (p.Arg1755His) rs144414607 0.00010
NM_017534.6(MYH2):c.2546C>T (p.Ala849Val) rs374630865 0.00009
NM_017534.6(MYH2):c.772A>G (p.Thr258Ala) rs776266174 0.00009
NM_017534.6(MYH2):c.1249G>A (p.Gly417Ser) rs148270782 0.00008
NM_017534.6(MYH2):c.3572A>G (p.His1191Arg) rs747186072 0.00008
NM_017534.6(MYH2):c.3683G>A (p.Ser1228Asn) rs147439455 0.00007
NM_017534.6(MYH2):c.3067G>C (p.Val1023Leu) rs201925793 0.00006
NM_017534.6(MYH2):c.3403C>T (p.Arg1135Trp) rs200134368 0.00006
NM_017534.6(MYH2):c.3701T>C (p.Ile1234Thr) rs143809867 0.00006
NM_017534.6(MYH2):c.3709C>T (p.Leu1237Phe) rs138265883 0.00006
NM_017534.6(MYH2):c.5378A>C (p.Glu1793Ala) rs912089271 0.00006
NM_017534.6(MYH2):c.1535C>T (p.Thr512Met) rs376478405 0.00005
NM_017534.6(MYH2):c.3425G>A (p.Arg1142His) rs781136210 0.00005
NM_017534.6(MYH2):c.3821G>A (p.Arg1274Gln) rs756811670 0.00005
NM_017534.6(MYH2):c.4049G>A (p.Arg1350Gln) rs145438977 0.00005
NM_017534.6(MYH2):c.5282C>T (p.Ala1761Val) rs377385495 0.00005
NM_017534.6(MYH2):c.1160C>T (p.Ala387Val) rs527337606 0.00004
NM_017534.6(MYH2):c.5305G>A (p.Ala1769Thr) rs550869991 0.00004
NM_017534.6(MYH2):c.2704G>A (p.Glu902Lys) rs781514305 0.00003
NM_017534.6(MYH2):c.4376T>C (p.Leu1459Pro) rs765135888 0.00003
NM_017534.6(MYH2):c.508C>T (p.Arg170Ter) rs750232956 0.00003
NM_017534.6(MYH2):c.5405G>A (p.Arg1802His) rs777282924 0.00003
NM_017534.6(MYH2):c.731C>T (p.Ser244Phe) rs201044964 0.00003
NM_017534.6(MYH2):c.182C>T (p.Thr61Met) rs145979297 0.00002
NM_017534.6(MYH2):c.3460G>A (p.Glu1154Lys) rs376357016 0.00002
NM_017534.6(MYH2):c.4205G>A (p.Arg1402Gln) rs781252325 0.00002
NM_017534.6(MYH2):c.5153G>A (p.Arg1718His) rs755776701 0.00002
NM_017534.6(MYH2):c.979G>A (p.Asp327Asn) rs200893594 0.00002
NM_017534.6(MYH2):c.1267G>A (p.Val423Met) rs1433670000 0.00001
NM_017534.6(MYH2):c.1306G>A (p.Glu436Lys) rs756281353 0.00001
NM_017534.6(MYH2):c.1492G>A (p.Val498Met) rs374726398 0.00001
NM_017534.6(MYH2):c.1546T>G (p.Phe516Val) rs894307740 0.00001
NM_017534.6(MYH2):c.1741G>A (p.Ala581Thr) rs757972369 0.00001
NM_017534.6(MYH2):c.1879G>T (p.Ala627Ser) rs778516827 0.00001
NM_017534.6(MYH2):c.2045A>G (p.Asn682Ser) rs761148856 0.00001
NM_017534.6(MYH2):c.2390G>T (p.Arg797Met) rs771139007 0.00001
NM_017534.6(MYH2):c.2654C>T (p.Thr885Met) rs150566222 0.00001
NM_017534.6(MYH2):c.2800G>A (p.Asp934Asn) rs201945489 0.00001
NM_017534.6(MYH2):c.2806G>A (p.Glu936Lys) rs1373237213 0.00001
NM_017534.6(MYH2):c.3046C>G (p.Leu1016Val) rs771807032 0.00001
NM_017534.6(MYH2):c.3395G>A (p.Arg1132Gln) rs778993350 0.00001
NM_017534.6(MYH2):c.3518G>A (p.Arg1173Gln) rs886043621 0.00001
NM_017534.6(MYH2):c.3653G>A (p.Arg1218Gln) rs139755852 0.00001
NM_017534.6(MYH2):c.3745-3T>C rs1305490194 0.00001
NM_017534.6(MYH2):c.3950A>C (p.Gln1317Pro) rs1380534578 0.00001
NM_017534.6(MYH2):c.4117G>A (p.Glu1373Lys) rs374190003 0.00001
NM_017534.6(MYH2):c.4199C>T (p.Ala1400Val) rs770023922 0.00001
NM_017534.6(MYH2):c.4261G>A (p.Glu1421Lys) rs368304404 0.00001
NM_017534.6(MYH2):c.4696C>T (p.Arg1566Cys) rs529367667 0.00001
NM_017534.6(MYH2):c.5095G>C (p.Glu1699Gln) rs1321342402 0.00001
NM_017534.6(MYH2):c.52C>T (p.Arg18Ter) rs769712128 0.00001
NM_017534.6(MYH2):c.1275C>G (p.Asn425Lys) rs151000841
NM_017534.6(MYH2):c.1395T>C (p.Ile465=)
NM_017534.6(MYH2):c.1518G>T (p.Lys506Asn)
NM_017534.6(MYH2):c.1565C>T (p.Ala522Val)
NM_017534.6(MYH2):c.1776C>G (p.Asn592Lys) rs763994556
NM_017534.6(MYH2):c.1792G>A (p.Glu598Lys) rs1555571267
NM_017534.6(MYH2):c.1796A>G (p.Lys599Arg)
NM_017534.6(MYH2):c.18A>T (p.Glu6Asp)
NM_017534.6(MYH2):c.2536T>G (p.Leu846Val)
NM_017534.6(MYH2):c.2542A>C (p.Ser848Arg)
NM_017534.6(MYH2):c.2609C>T (p.Ala870Val) rs1567731278
NM_017534.6(MYH2):c.2666A>G (p.Glu889Gly)
NM_017534.6(MYH2):c.3005A>G (p.Lys1002Arg) rs1324293373
NM_017534.6(MYH2):c.3011C>A (p.Ala1004Asp)
NM_017534.6(MYH2):c.3169G>A (p.Ala1057Thr)
NM_017534.6(MYH2):c.3404G>A (p.Arg1135Gln)
NM_017534.6(MYH2):c.3475G>T (p.Ala1159Ser)
NM_017534.6(MYH2):c.3517C>A (p.Arg1173=) rs767243766
NM_017534.6(MYH2):c.3777G>A (p.Glu1259=)
NM_017534.6(MYH2):c.380A>G (p.Asn127Ser)
NM_017534.6(MYH2):c.4000G>T (p.Ala1334Ser) rs779257410
NM_017534.6(MYH2):c.4360A>G (p.Asn1454Asp)
NM_017534.6(MYH2):c.4570G>A (p.Glu1524Lys)
NM_017534.6(MYH2):c.5026C>G (p.Gln1676Glu)
NM_017534.6(MYH2):c.5074G>A (p.Glu1692Lys)
NM_017534.6(MYH2):c.5084G>A (p.Arg1695Gln)
NM_017534.6(MYH2):c.5122G>A (p.Ala1708Thr) rs147813930
NM_017534.6(MYH2):c.5513G>A (p.Arg1838His)
NM_017534.6(MYH2):c.5527G>C (p.Val1843Leu)
NM_017534.6(MYH2):c.5555G>A (p.Arg1852Gln)
NM_017534.6(MYH2):c.5664_5668dup (p.Glu1890fs)
NM_017534.6(MYH2):c.70C>T (p.Arg24Cys)
NM_017534.6(MYH2):c.710A>G (p.Lys237Arg)
NM_017534.6(MYH2):c.71G>A (p.Arg24His)
NM_017534.6(MYH2):c.736C>T (p.Arg246Cys)
NM_017534.6(MYH2):c.824G>T (p.Arg275Ile)

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