ClinVar Miner

List of variants in gene MYO6 reported as uncertain significance by Invitae

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Gene type:
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Total variants: 117
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HGVS dbSNP gnomAD frequency
NM_004999.4(MYO6):c.52A>G (p.Met18Val) rs142516093 0.00030
NM_004999.4(MYO6):c.3176G>C (p.Arg1059Thr) rs202214380 0.00020
NM_004999.4(MYO6):c.188-3T>C rs373199401 0.00017
NM_004999.4(MYO6):c.271G>A (p.Ala91Thr) rs573770611 0.00013
NM_004999.4(MYO6):c.3439C>T (p.Pro1147Ser) rs748774373 0.00007
NM_004999.4(MYO6):c.3791A>G (p.Asn1264Ser) rs367978681 0.00007
NM_004999.4(MYO6):c.1180G>A (p.Val394Ile) rs373519764 0.00006
NM_004999.4(MYO6):c.1589A>T (p.Asp530Val) rs373929865 0.00006
NM_004999.4(MYO6):c.2342T>A (p.Val781Asp) rs750880162 0.00006
NM_004999.4(MYO6):c.2672C>T (p.Thr891Met) rs146682372 0.00006
NM_004999.4(MYO6):c.2818C>T (p.Arg940Cys) rs200205409 0.00006
NM_004999.4(MYO6):c.3269A>G (p.Asn1090Ser) rs368097606 0.00006
NM_004999.4(MYO6):c.3367A>G (p.Asn1123Asp) rs189411232 0.00006
NM_004999.4(MYO6):c.3439+1G>A rs146219669 0.00004
NM_004999.4(MYO6):c.596G>A (p.Arg199His) rs140235734 0.00004
NM_004999.4(MYO6):c.91A>G (p.Ile31Val) rs775035511 0.00004
NM_004999.4(MYO6):c.140A>G (p.Gln47Arg) rs576924704 0.00003
NM_004999.4(MYO6):c.1607C>T (p.Pro536Leu) rs980820643 0.00003
NM_004999.4(MYO6):c.1939T>G (p.Phe647Val) rs752585373 0.00003
NM_004999.4(MYO6):c.2020A>G (p.Lys674Glu) rs374247860 0.00003
NM_004999.4(MYO6):c.3679T>C (p.Cys1227Arg) rs370061746 0.00003
NM_004999.4(MYO6):c.217C>G (p.Leu73Val) rs759372006 0.00002
NM_004999.4(MYO6):c.3035T>C (p.Leu1012Pro) rs757332098 0.00002
NM_004999.4(MYO6):c.3719G>A (p.Arg1240His) rs772457315 0.00002
NM_004999.4(MYO6):c.1674+5G>A rs761306925 0.00001
NM_004999.4(MYO6):c.2508C>T (p.Arg836=) rs1194065369 0.00001
NM_004999.4(MYO6):c.2837G>A (p.Arg946His) rs781754117 0.00001
NM_004999.4(MYO6):c.3057T>G (p.Ser1019Arg) rs372968228 0.00001
NM_004999.4(MYO6):c.3137+5G>A rs397517050 0.00001
NM_004999.4(MYO6):c.3515G>A (p.Arg1172His) rs1554223761 0.00001
NM_004999.4(MYO6):c.3704G>T (p.Gly1235Val) rs199728355 0.00001
NM_004999.4(MYO6):c.647A>T (p.Glu216Val) rs121912559 0.00001
NM_004999.4(MYO6):c.685C>T (p.Leu229Phe) rs1301010120 0.00001
NC_000006.11:g.(?_76527265)_(76542684_?)dup
NM_004999.4(MYO6):c.1073C>T (p.Thr358Ile)
NM_004999.4(MYO6):c.1078+6C>T
NM_004999.4(MYO6):c.1079G>A (p.Gly360Asp)
NM_004999.4(MYO6):c.1115T>C (p.Leu372Ser)
NM_004999.4(MYO6):c.1156C>T (p.Leu386Phe)
NM_004999.4(MYO6):c.1161A>G (p.Arg387=)
NM_004999.4(MYO6):c.1216G>C (p.Val406Leu)
NM_004999.4(MYO6):c.1283A>G (p.Tyr428Cys)
NM_004999.4(MYO6):c.1291C>T (p.Leu431Phe)
NM_004999.4(MYO6):c.1383_1385del (p.Glu461_Tyr462delinsAsp)
NM_004999.4(MYO6):c.1397A>T (p.Asn466Ile)
NM_004999.4(MYO6):c.1442A>C (p.Gln481Pro)
NM_004999.4(MYO6):c.1447T>A (p.Phe483Ile)
NM_004999.4(MYO6):c.1516G>T (p.Val506Leu) rs1554211583
NM_004999.4(MYO6):c.1627T>C (p.Phe543Leu)
NM_004999.4(MYO6):c.1747G>A (p.Ala583Thr)
NM_004999.4(MYO6):c.1770+3G>A
NM_004999.4(MYO6):c.1785G>T (p.Glu595Asp)
NM_004999.4(MYO6):c.1852C>T (p.Arg618Trp)
NM_004999.4(MYO6):c.1867T>G (p.Ser623Ala)
NM_004999.4(MYO6):c.1885A>G (p.Lys629Glu)
NM_004999.4(MYO6):c.2103G>A (p.Met701Ile) rs975737464
NM_004999.4(MYO6):c.2149A>G (p.Met717Val) rs2149343586
NM_004999.4(MYO6):c.2159A>T (p.Lys720Met)
NM_004999.4(MYO6):c.2164A>G (p.Met722Val) rs2149343655
NM_004999.4(MYO6):c.2183G>A (p.Arg728Lys)
NM_004999.4(MYO6):c.2218A>G (p.Lys740Glu) rs2149343921
NM_004999.4(MYO6):c.2253T>G (p.Phe751Leu)
NM_004999.4(MYO6):c.2274T>G (p.Phe758Leu)
NM_004999.4(MYO6):c.2307C>G (p.Ile769Met)
NM_004999.4(MYO6):c.2366C>T (p.Thr789Ile)
NM_004999.4(MYO6):c.2374C>T (p.Arg792Cys)
NM_004999.4(MYO6):c.2410A>G (p.Ile804Val)
NM_004999.4(MYO6):c.2430A>G (p.Ile810Met) rs1354902174
NM_004999.4(MYO6):c.2560A>G (p.Asn854Asp) rs2149358961
NM_004999.4(MYO6):c.2566G>T (p.Val856Leu)
NM_004999.4(MYO6):c.2696A>G (p.Tyr899Cys)
NM_004999.4(MYO6):c.2726_2727delinsAA (p.Leu909Gln) rs2149367706
NM_004999.4(MYO6):c.275A>G (p.Asn92Ser)
NM_004999.4(MYO6):c.2762A>G (p.Glu921Gly)
NM_004999.4(MYO6):c.2795A>G (p.Glu932Gly)
NM_004999.4(MYO6):c.2804A>G (p.Lys935Arg)
NM_004999.4(MYO6):c.2810G>T (p.Arg937Ile)
NM_004999.4(MYO6):c.2857G>A (p.Glu953Lys)
NM_004999.4(MYO6):c.2872C>G (p.Leu958Val)
NM_004999.4(MYO6):c.2881G>A (p.Glu961Lys)
NM_004999.4(MYO6):c.2906A>G (p.Glu969Gly)
NM_004999.4(MYO6):c.2937A>C (p.Lys979Asn)
NM_004999.4(MYO6):c.2938C>T (p.Arg980Cys)
NM_004999.4(MYO6):c.2939G>A (p.Arg980His)
NM_004999.4(MYO6):c.3005T>A (p.Val1002Asp)
NM_004999.4(MYO6):c.3017A>T (p.Glu1006Val) rs1321745586
NM_004999.4(MYO6):c.3076G>C (p.Asp1026His)
NM_004999.4(MYO6):c.3103C>T (p.Arg1035Trp)
NM_004999.4(MYO6):c.3177-3C>T rs747051401
NM_004999.4(MYO6):c.3197C>T (p.Thr1066Ile) rs1312339926
NM_004999.4(MYO6):c.3200A>C (p.Lys1067Thr)
NM_004999.4(MYO6):c.3235A>G (p.Lys1079Glu)
NM_004999.4(MYO6):c.3278G>A (p.Cys1093Tyr)
NM_004999.4(MYO6):c.3280+3_3280+6del
NM_004999.4(MYO6):c.3301T>G (p.Cys1101Gly)
NM_004999.4(MYO6):c.3520C>T (p.Pro1174Ser)
NM_004999.4(MYO6):c.3567A>G (p.Lys1189=)
NM_004999.4(MYO6):c.359T>C (p.Leu120Pro)
NM_004999.4(MYO6):c.3607G>T (p.Ala1203Ser)
NM_004999.4(MYO6):c.3631G>A (p.Asp1211Asn)
NM_004999.4(MYO6):c.3715A>T (p.Lys1239Ter)
NM_004999.4(MYO6):c.3718_3719del (p.Arg1240fs) rs1781031440
NM_004999.4(MYO6):c.3742C>G (p.Gln1248Glu)
NM_004999.4(MYO6):c.3851dup (p.Leu1284fs)
NM_004999.4(MYO6):c.392-20A>G
NM_004999.4(MYO6):c.467G>A (p.Gly156Asp)
NM_004999.4(MYO6):c.473C>G (p.Thr158Arg)
NM_004999.4(MYO6):c.539A>C (p.Asp180Ala)
NM_004999.4(MYO6):c.554-4A>G
NM_004999.4(MYO6):c.584C>A (p.Ala195Glu) rs772421255
NM_004999.4(MYO6):c.614G>A (p.Arg205Gln) rs2150250121
NM_004999.4(MYO6):c.667G>A (p.Gly223Arg)
NM_004999.4(MYO6):c.728G>T (p.Arg243Ile)
NM_004999.4(MYO6):c.853A>G (p.Lys285Glu)
NM_004999.4(MYO6):c.884G>A (p.Arg295His)
NM_004999.4(MYO6):c.922G>C (p.Asp308His) rs764615017
NM_004999.4(MYO6):c.926C>G (p.Pro309Arg)

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