ClinVar Miner

List of variants in gene MYO6 reported by Eurofins NTD LLC (GA)

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Total variants: 21
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HGVS dbSNP gnomAD frequency
NM_004999.4(MYO6):c.1120T>C (p.Tyr374His) rs61732664 0.00738
NM_004999.4(MYO6):c.2982G>A (p.Glu994=) rs55905349 0.00487
NM_004999.4(MYO6):c.3824A>G (p.Tyr1275Cys) rs146461956 0.00424
NM_004999.4(MYO6):c.2534C>T (p.Thr845Ile) rs55662069 0.00322
NM_004999.4(MYO6):c.3563A>G (p.Lys1188Arg) rs61734891 0.00266
NM_004999.4(MYO6):c.1224-4A>G rs144031818 0.00238
NM_004999.4(MYO6):c.2635G>A (p.Asp879Asn) rs60970824 0.00175
NM_004999.4(MYO6):c.1025C>T (p.Ala342Val) rs145564837 0.00128
NM_004999.4(MYO6):c.3530G>A (p.Arg1177His) rs139664153 0.00099
NM_004999.4(MYO6):c.3529C>T (p.Arg1177Cys) rs146419641 0.00069
NM_004999.4(MYO6):c.1546+6T>C rs199999513 0.00052
NM_004999.4(MYO6):c.2836C>T (p.Arg946Cys) rs141845119 0.00039
NM_004999.4(MYO6):c.2472T>G (p.Ile824Met) rs368132510 0.00014
NM_004999.4(MYO6):c.3791A>G (p.Asn1264Ser) rs367978681 0.00007
NM_004999.4(MYO6):c.1631C>T (p.Thr544Ile) rs371944427 0.00003
NM_004999.4(MYO6):c.3171G>C (p.Leu1057Phe) rs762612311 0.00003
NM_004999.4(MYO6):c.826C>T (p.Arg276Ter) rs727503326 0.00002
NM_004999.4(MYO6):c.1216G>A (p.Val406Ile) rs377562418
NM_004999.4(MYO6):c.2770G>A (p.Glu924Lys) rs1562290993
NM_004999.4(MYO6):c.2898AGA[3] (p.Glu970del) rs727504743
NM_004999.4(MYO6):c.3430A>G (p.Asn1144Asp) rs794727568

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