ClinVar Miner

List of variants studied for Myopathy, centronuclear, 5

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Total variants: 85
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HGVS dbSNP gnomAD frequency
NM_005876.5(SPEG):c.9462-27C>T rs907146 0.96294
NM_005876.5(SPEG):c.2226G>A (p.Lys742=) rs10932806 0.42459
NM_005876.5(SPEG):c.9236A>G (p.His3079Arg) rs12464085 0.38593
NM_005876.5(SPEG):c.8368A>G (p.Arg2790Gly) rs55760516 0.37734
NM_005876.5(SPEG):c.7839G>A (p.Pro2613=) rs875098 0.25609
NM_005876.5(SPEG):c.9390G>T (p.Pro3130=) rs12473286 0.25371
NM_005876.5(SPEG):c.6566C>T (p.Pro2189Leu) rs10755037 0.25298
NM_005876.5(SPEG):c.8059C>A (p.Pro2687Thr) rs13026308 0.10397
NM_005876.5(SPEG):c.6692C>A (p.Pro2231His) rs183551699 0.01350
NM_005876.5(SPEG):c.7810C>T (p.Leu2604Phe) rs77314619 0.00575
NM_001042492.3(NF1):c.846G>A (p.Gln282=) rs138840528 0.00149
NM_000104.4(CYP1B1):c.1103G>A (p.Arg368His) rs79204362 0.00125
NM_005876.5(SPEG):c.2572C>T (p.Arg858Cys) rs199582765 0.00124
NM_005876.5(SPEG):c.4400G>A (p.Arg1467Gln) rs181222936 0.00113
NM_005876.5(SPEG):c.3700C>T (p.Arg1234Trp) rs55916864 0.00063
NM_005876.5(SPEG):c.4861C>T (p.Arg1621Cys) rs55646900 0.00027
NM_005876.5(SPEG):c.1301G>A (p.Arg434His) rs924342297 0.00025
NM_005876.5(SPEG):c.4298G>A (p.Arg1433Gln) rs200847303 0.00024
NM_005876.5(SPEG):c.52C>T (p.Pro18Ser) rs544959269 0.00019
NM_005876.5(SPEG):c.206C>T (p.Thr69Met) rs768017689 0.00016
NM_005876.5(SPEG):c.8110C>T (p.Arg2704Trp) rs370009561 0.00015
NM_005876.5(SPEG):c.4759G>A (p.Gly1587Arg) rs200114716 0.00013
NM_005876.5(SPEG):c.7262C>T (p.Pro2421Leu) rs376076241 0.00012
NM_005876.5(SPEG):c.4883C>T (p.Ala1628Val) rs199971371 0.00006
NM_005876.5(SPEG):c.4927C>T (p.Arg1643Cys) rs570861370 0.00006
NM_005876.5(SPEG):c.5743A>C (p.Ser1915Arg) rs199549168 0.00004
NM_005876.5(SPEG):c.5897G>C (p.Gly1966Ala) rs759849782 0.00004
NM_005876.5(SPEG):c.7876T>C (p.Ser2626Pro) rs200008141 0.00004
NM_005876.5(SPEG):c.9016C>T (p.Arg3006Trp) rs781096883 0.00004
NM_005876.5(SPEG):c.9078C>T (p.His3026=) rs541299207 0.00004
NM_005876.5(SPEG):c.418G>A (p.Asp140Asn) rs202151661 0.00003
NM_005876.5(SPEG):c.1149C>T (p.Arg383=) rs1295142218 0.00001
NM_005876.5(SPEG):c.1612C>T (p.Arg538Trp) rs1381276826 0.00001
NM_005876.5(SPEG):c.2134G>A (p.Val712Met) rs375953839 0.00001
NM_005876.5(SPEG):c.2763G>T (p.Glu921Asp) rs956843160 0.00001
NM_005876.5(SPEG):c.3134C>T (p.Thr1045Met) rs62191886 0.00001
NM_005876.5(SPEG):c.3163C>T (p.Arg1055Trp) rs1202116887 0.00001
NM_005876.5(SPEG):c.4129G>A (p.Val1377Met) rs1352203937 0.00001
NM_005876.5(SPEG):c.7442C>T (p.Ser2481Leu) rs1343314943 0.00001
NM_005876.5(SPEG):c.8239C>T (p.Arg2747Cys) rs757903145 0.00001
NM_005876.5(SPEG):c.1114C>G (p.Arg372Gly)
NM_005876.5(SPEG):c.1625C>A (p.Pro542His) rs927960851
NM_005876.5(SPEG):c.2183del (p.Leu728fs) rs1575065895
NM_005876.5(SPEG):c.2372G>A (p.Ser791Asn)
NM_005876.5(SPEG):c.257C>G (p.Pro86Arg)
NM_005876.5(SPEG):c.2915_2916delinsA (p.Ala972fs) rs587777675
NM_005876.5(SPEG):c.3074A>G (p.Lys1025Arg)
NM_005876.5(SPEG):c.340C>T (p.Arg114Trp) rs570323054
NM_005876.5(SPEG):c.3517A>C (p.Ile1173Leu)
NM_005876.5(SPEG):c.3564T>C (p.Pro1188=) rs10167209
NM_005876.5(SPEG):c.3709_3715+29del rs587777674
NM_005876.5(SPEG):c.4117C>G (p.Pro1373Ala) rs200713879
NM_005876.5(SPEG):c.4276C>T (p.Arg1426Ter) rs587777673
NM_005876.5(SPEG):c.4360_4375del (p.Val1454fs)
NM_005876.5(SPEG):c.4362G>T (p.Val1454=)
NM_005876.5(SPEG):c.4377G>A (p.Met1459Ile)
NM_005876.5(SPEG):c.4660G>A (p.Val1554Ile)
NM_005876.5(SPEG):c.5707C>T (p.Arg1903Trp)
NM_005876.5(SPEG):c.6415C>G (p.Arg2139Gly)
NM_005876.5(SPEG):c.6422G>C (p.Arg2141Pro)
NM_005876.5(SPEG):c.6618dup (p.Ala2207fs)
NM_005876.5(SPEG):c.6697C>A (p.Gln2233Lys) rs587777672
NM_005876.5(SPEG):c.6697C>T (p.Gln2233Ter) rs587777672
NM_005876.5(SPEG):c.6739_6740delinsTT (p.Gln2247Leu) rs2125558050
NM_005876.5(SPEG):c.6971T>A (p.Ile2324Asn) rs201170917
NM_005876.5(SPEG):c.7262_7280dup (p.Ala2428fs)
NM_005876.5(SPEG):c.7447C>T (p.Arg2483Cys)
NM_005876.5(SPEG):c.7795G>T (p.Glu2599Ter)
NM_005876.5(SPEG):c.7847_7849del (p.Ser2616del)
NM_005876.5(SPEG):c.7940C>A (p.Ala2647Glu)
NM_005876.5(SPEG):c.8009G>A (p.Cys2670Tyr)
NM_005876.5(SPEG):c.800C>A (p.Ala267Glu) rs762057369
NM_005876.5(SPEG):c.8047C>T (p.Pro2683Ser)
NM_005876.5(SPEG):c.8270G>T (p.Gly2757Val) rs587777676
NM_005876.5(SPEG):c.8290G>C (p.Glu2764Gln)
NM_005876.5(SPEG):c.851C>T (p.Pro284Leu)
NM_005876.5(SPEG):c.8839C>T (p.Arg2947Ter) rs768300296
NM_005876.5(SPEG):c.8872C>T (p.Arg2958Ter)
NM_005876.5(SPEG):c.8965_8989dup (p.Val2997fs) rs1575201712
NM_005876.5(SPEG):c.9004G>T (p.Glu3002Ter)
NM_005876.5(SPEG):c.9028_9030del (p.Glu3010del) rs1575202038
NM_005876.5(SPEG):c.9134G>A (p.Arg3045Gln)
NM_005876.5(SPEG):c.9346A>G (p.Arg3116Gly)
NM_005876.5(SPEG):c.9389C>T (p.Pro3130Leu) rs1376293618
NM_005876.5(SPEG):c.9575C>A (p.Thr3192Asn) rs534715710

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