ClinVar Miner

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

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Gene type:
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Total variants: 73
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HGVS dbSNP gnomAD frequency
NM_004999.4(MYO6):c.1030G>A (p.Val344Ile) rs199798449 0.00052
NM_004999.4(MYO6):c.475G>A (p.Glu159Lys) rs201507590 0.00026
NM_004999.4(MYO6):c.262-12T>G rs368072756 0.00017
NM_004999.4(MYO6):c.2472T>G (p.Ile824Met) rs368132510 0.00014
NM_004999.4(MYO6):c.2665A>G (p.Met889Val) rs727505098 0.00014
NM_004999.4(MYO6):c.26C>T (p.Ala9Val) rs199508553 0.00014
NM_004999.4(MYO6):c.271G>A (p.Ala91Thr) rs573770611 0.00013
NM_004999.4(MYO6):c.2357A>G (p.His786Arg) rs780037124 0.00007
NM_004999.4(MYO6):c.1180G>A (p.Val394Ile) rs373519764 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.3514C>T (p.Arg1172Cys) rs752568854 0.00005
NM_004999.4(MYO6):c.1658A>T (p.Asp553Val) rs376562219 0.00004
NM_004999.4(MYO6):c.3814C>T (p.Arg1272Trp) rs199699596 0.00004
NM_004999.4(MYO6):c.1631C>T (p.Thr544Ile) rs371944427 0.00003
NM_004999.4(MYO6):c.163A>G (p.Ser55Gly) rs774802052 0.00003
NM_004999.4(MYO6):c.2020A>G (p.Lys674Glu) rs374247860 0.00003
NM_004999.4(MYO6):c.2515G>A (p.Gly839Ser) rs1352587099 0.00002
NM_004999.4(MYO6):c.3019C>T (p.Arg1007Cys) rs143152727 0.00002
NM_004999.4(MYO6):c.3098C>T (p.Ala1033Val) rs147066544 0.00002
NM_004999.4(MYO6):c.3719G>A (p.Arg1240His) rs772457315 0.00002
NM_004999.4(MYO6):c.61A>T (p.Ile21Phe) rs546375259 0.00002
NM_004999.4(MYO6):c.826C>T (p.Arg276Ter) rs727503326 0.00002
NM_004999.4(MYO6):c.1049T>C (p.Ile350Thr) rs377470568 0.00001
NM_004999.4(MYO6):c.1160G>A (p.Arg387Gln) rs752489259 0.00001
NM_004999.4(MYO6):c.1234A>G (p.Lys412Glu) rs1379950750 0.00001
NM_004999.4(MYO6):c.178G>C (p.Glu60Gln) rs757420692 0.00001
NM_004999.4(MYO6):c.2000G>A (p.Arg667His) rs781769307 0.00001
NM_004999.4(MYO6):c.2151G>T (p.Met717Ile) rs1409808281 0.00001
NM_004999.4(MYO6):c.2162A>G (p.Tyr721Cys) rs1777881219 0.00001
NM_004999.4(MYO6):c.2837G>A (p.Arg946His) rs781754117 0.00001
NM_004999.4(MYO6):c.287C>T (p.Ala96Val) rs749522327 0.00001
NM_004999.4(MYO6):c.3057T>G (p.Ser1019Arg) rs372968228 0.00001
NM_004999.4(MYO6):c.3177-5T>C rs1335496279 0.00001
NM_004999.4(MYO6):c.3338A>T (p.His1113Leu) rs755485724 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.-47-3C>G
NM_004999.4(MYO6):c.1015C>T (p.Arg339Trp) rs1443534092
NM_004999.4(MYO6):c.1216G>C (p.Val406Leu)
NM_004999.4(MYO6):c.1295T>C (p.Phe432Ser) rs2149283139
NM_004999.4(MYO6):c.1376G>C (p.Gly459Ala)
NM_004999.4(MYO6):c.166A>G (p.Lys56Glu) rs1344780366
NM_004999.4(MYO6):c.1733T>A (p.Ile578Asn)
NM_004999.4(MYO6):c.1935C>A (p.Asn645Lys) rs2149313117
NM_004999.4(MYO6):c.1945-3C>G rs1285253674
NM_004999.4(MYO6):c.2060C>G (p.Ser687Cys) rs765145836
NM_004999.4(MYO6):c.2103G>A (p.Met701Ile) rs975737464
NM_004999.4(MYO6):c.2165T>C (p.Met722Thr)
NM_004999.4(MYO6):c.221T>C (p.Leu74Pro)
NM_004999.4(MYO6):c.2410A>G (p.Ile804Val)
NM_004999.4(MYO6):c.2474G>A (p.Arg825Gln)
NM_004999.4(MYO6):c.2539A>C (p.Lys847Gln)
NM_004999.4(MYO6):c.2545C>G (p.Arg849Gly)
NM_004999.4(MYO6):c.2632A>G (p.Ile878Val)
NM_004999.4(MYO6):c.2866A>G (p.Met956Val) rs2149368221
NM_004999.4(MYO6):c.2891G>T (p.Arg964Ile)
NM_004999.4(MYO6):c.2896C>G (p.Gln966Glu)
NM_004999.4(MYO6):c.2898AGA[3] (p.Glu970del) rs727504743
NM_004999.4(MYO6):c.3137+1G>A rs200713129
NM_004999.4(MYO6):c.3198C>T (p.Thr1066=) rs143864052
NM_004999.4(MYO6):c.3235A>G (p.Lys1079Glu)
NM_004999.4(MYO6):c.3577T>C (p.Trp1193Arg) rs2149433689
NM_004999.4(MYO6):c.3586C>G (p.His1196Asp) rs2149433696
NM_004999.4(MYO6):c.3623_3640del (p.Leu1208_Pro1213del) rs2149433811
NM_004999.4(MYO6):c.3764G>A (p.Arg1255His) rs751099407
NM_004999.4(MYO6):c.3818C>T (p.Pro1273Leu) rs142424695
NM_004999.4(MYO6):c.3844_3845del (p.Leu1283fs)
NM_004999.4(MYO6):c.391+3_391+6del rs2150213297
NM_004999.4(MYO6):c.412A>G (p.Met138Val)
NM_004999.4(MYO6):c.4G>A (p.Glu2Lys) rs2150167197
NM_004999.4(MYO6):c.61A>G (p.Ile21Val) rs546375259
NM_004999.4(MYO6):c.993T>A (p.Asp331Glu) rs757488387

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