ClinVar Miner

List of variants in gene MYH6 studied for Atrial septal defect 3

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Total variants: 19
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HGVS dbSNP gnomAD frequency
NM_002471.4(MYH6):c.2928+5G>A rs28730772 0.00172
NM_002471.4(MYH6):c.3230A>T (p.Gln1077Leu) rs377716628 0.00032
NM_002471.4(MYH6):c.4328C>A (p.Ala1443Asp) rs727503234 0.00019
NM_002471.4(MYH6):c.1753G>A (p.Gly585Ser) rs150415679 0.00014
NM_002471.4(MYH6):c.4082G>A (p.Arg1361His) rs533942127 0.00004
NM_002471.4(MYH6):c.1088T>C (p.Met363Thr) rs150272218 0.00003
NM_002471.4(MYH6):c.2018G>A (p.Arg673His) rs1023327699 0.00003
NM_002471.4(MYH6):c.2615G>A (p.Arg872His) rs773162706 0.00003
NM_002471.4(MYH6):c.1411-12T>C rs749244720 0.00001
NM_002471.4(MYH6):c.1578G>C (p.Glu526Asp) rs753062079 0.00001
NM_002471.4(MYH6):c.2086C>T (p.Arg696Cys) rs778886029 0.00001
NM_002471.4(MYH6):c.1141+2T>C
NM_002471.4(MYH6):c.2459T>A (p.Ile820Asn) rs267606903
NM_002471.4(MYH6):c.2878G>A (p.Glu960Lys) rs1595056419
NM_002471.4(MYH6):c.3946G>A (p.Asp1316Asn)
NM_002471.4(MYH6):c.4496C>A (p.Thr1499Asn) rs2138587576
NM_002471.4(MYH6):c.5452G>C (p.Glu1818Gln) rs201494081
NM_002471.4(MYH6):c.5555T>C (p.Leu1852Pro) rs2138581208
NM_002471.4(MYH6):c.864C>G (p.Tyr288Ter) rs186265521

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