ClinVar Miner

List of variants studied for Myopathy, proximal, and ophthalmoplegia by Illumina Laboratory Services, Illumina

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Total variants: 70
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HGVS dbSNP gnomAD frequency
NM_017534.6(MYH2):c.324A>G (p.Glu108=) rs12600539 0.42634
NM_017534.6(MYH2):c.904+10G>A rs719277 0.39768
NM_017534.6(MYH2):c.3263+15A>G rs2277651 0.34231
NM_017534.6(MYH2):c.5034C>T (p.Ala1678=) rs1042236 0.17365
NM_017534.6(MYH2):c.1975-9G>A rs3744566 0.06015
NM_017534.6(MYH2):c.5674-10T>C rs16943488 0.01300
NM_017534.6(MYH2):c.2967A>G (p.Ala989=) rs113190032 0.01110
NM_017534.6(MYH2):c.183G>A (p.Thr61=) rs142539913 0.00745
NM_017534.6(MYH2):c.2382C>A (p.Thr794=) rs76400103 0.00548
NM_017534.6(MYH2):c.4242C>T (p.Asn1414=) rs146615128 0.00548
NM_017534.6(MYH2):c.2908G>A (p.Val970Ile) rs143872329 0.00456
NM_017534.6(MYH2):c.2295G>A (p.Gly765=) rs79757188 0.00317
NM_017534.6(MYH2):c.4860C>G (p.Leu1620=) rs148538539 0.00234
NM_017534.6(MYH2):c.3181C>G (p.Leu1061Val) rs142586585 0.00225
NM_017534.6(MYH2):c.3432C>T (p.Asp1144=) rs184725551 0.00091
NM_017534.6(MYH2):c.2106C>T (p.Asn702=) rs145039915 0.00085
NM_017534.6(MYH2):c.*51C>A rs2286357 0.00081
NM_017534.6(MYH2):c.4774C>A (p.Leu1592Met) rs138393827 0.00068
NM_017534.6(MYH2):c.2062+8A>G rs117562194 0.00039
NM_017534.6(MYH2):c.2414T>C (p.Val805Ala) rs200662973 0.00034
NM_017534.6(MYH2):c.3582A>G (p.Thr1194=) rs200505060 0.00034
NM_017534.6(MYH2):c.4258C>T (p.Leu1420Phe) rs187438258 0.00019
NM_017534.6(MYH2):c.-34C>T rs573601098 0.00014
NM_017534.6(MYH2):c.4149G>A (p.Thr1383=) rs376738763 0.00008
NM_017534.6(MYH2):c.-60T>C rs886052575 0.00003
NM_017534.6(MYH2):c.2655G>A (p.Thr885=) rs141764966 0.00003
NM_017534.6(MYH2):c.2725G>T (p.Glu909Ter) rs780124402 0.00002
NM_017534.6(MYH2):c.3299T>C (p.Ile1100Thr) rs769463886 0.00002
NM_017534.6(MYH2):c.4205G>A (p.Arg1402Gln) rs781252325 0.00002
NM_017534.6(MYH2):c.5115A>G (p.Arg1705=) rs1042270 0.00002
NM_017534.6(MYH2):c.5744G>A (p.Arg1915Gln) rs201882457 0.00002
NM_017534.6(MYH2):c.*131T>C rs1407636374 0.00001
NM_017534.6(MYH2):c.1251C>A (p.Gly417=) rs746987085 0.00001
NM_017534.6(MYH2):c.2305-11T>G rs369500791 0.00001
NM_017534.6(MYH2):c.2468A>G (p.Asn823Ser) rs1378547305 0.00001
NM_017534.6(MYH2):c.3263+11A>G rs890845570 0.00001
NM_017534.6(MYH2):c.3358C>T (p.Arg1120Cys) rs756255059 0.00001
NM_017534.6(MYH2):c.3567A>G (p.Leu1189=) rs886052565 0.00001
NM_017534.6(MYH2):c.3839C>T (p.Thr1280Ile) rs886052564 0.00001
NM_017534.6(MYH2):c.4158C>A (p.Ile1386=) rs778626880 0.00001
NM_017534.6(MYH2):c.5294T>A (p.Ile1765Asn) rs139621607 0.00001
NM_017534.6(MYH2):c.649G>A (p.Gly217Arg) rs1204821136 0.00001
NM_017534.6(MYH2):c.688C>T (p.Leu230=) rs375063863 0.00001
NM_017534.6(MYH2):c.-10T>C rs886052574
NM_017534.6(MYH2):c.-64+13A>G rs886052576
NM_017534.6(MYH2):c.132A>C (p.Lys44Asn) rs2073654641
NM_017534.6(MYH2):c.1444A>C (p.Asn482His) rs886052570
NM_017534.6(MYH2):c.1644C>A (p.Asp548Glu) rs886052569
NM_017534.6(MYH2):c.1913G>A (p.Gly638Glu) rs2073484495
NM_017534.6(MYH2):c.1925del (p.Gly642fs) rs2142309612
NM_017534.6(MYH2):c.2125C>T (p.Arg709Cys) rs761461325
NM_017534.6(MYH2):c.2181-9C>T rs886052568
NM_017534.6(MYH2):c.2264T>C (p.Ile755Thr) rs1167250510
NM_017534.6(MYH2):c.2331G>A (p.Gly777=) rs886052567
NM_017534.6(MYH2):c.2331G>T (p.Gly777=) rs886052567
NM_017534.6(MYH2):c.2478C>T (p.Ser826=) rs2073428153
NM_017534.6(MYH2):c.2893C>T (p.Leu965=) rs886052566
NM_017534.6(MYH2):c.301G>C (p.Ala101Pro) rs886052573
NM_017534.6(MYH2):c.3312G>A (p.Gln1104=) rs1257247271
NM_017534.6(MYH2):c.3369G>C (p.Glu1123Asp) rs2073391277
NM_017534.6(MYH2):c.3468G>A (p.Leu1156=) rs2073389597
NM_017534.6(MYH2):c.399T>A (p.Pro133=) rs11078850
NM_017534.6(MYH2):c.4007C>T (p.Ala1336Val) rs138470281
NM_017534.6(MYH2):c.4048C>T (p.Arg1350Trp) rs776018379
NM_017534.6(MYH2):c.495C>A (p.Phe165Leu) rs886052572
NM_017534.6(MYH2):c.5176-10T>C rs886052563
NM_017534.6(MYH2):c.5176-12C>A rs1270961978
NM_017534.6(MYH2):c.5616T>C (p.Asp1872=) rs2073304426
NM_017534.6(MYH2):c.579C>T (p.Ile193=) rs886052571
NM_017534.6(MYH2):c.71G>T (p.Arg24Leu) rs141174023

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