ClinVar Miner

List of variants in gene MYH9 reported by NIHR Bioresource Rare Diseases, University of Cambridge

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Total variants: 37
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HGVS dbSNP gnomAD frequency
NM_002473.6(MYH9):c.5074G>A (p.Ala1692Thr) rs767426084 0.00007
NM_002473.6(MYH9):c.4302G>C (p.Gln1434His) rs143979758 0.00002
NM_002473.6(MYH9):c.154G>A (p.Glu52Lys) rs779218645 0.00001
NM_002473.6(MYH9):c.2105G>A (p.Arg702His) rs80338827 0.00001
NM_002473.6(MYH9):c.108_116del (p.Asp37_Ser39del) rs1603484057
NM_002473.6(MYH9):c.1119G>C (p.Lys373Asn) rs1603483388
NM_002473.6(MYH9):c.122T>C (p.Phe41Ser) rs1057520107
NM_002473.6(MYH9):c.130_131delinsCT (p.Ala44Leu) rs1603484050
NM_002473.6(MYH9):c.2104C>A (p.Arg702Ser) rs80338826
NM_002473.6(MYH9):c.2104C>T (p.Arg702Cys) rs80338826
NM_002473.6(MYH9):c.2152C>T (p.Arg718Trp) rs1184544985
NM_002473.6(MYH9):c.220A>G (p.Lys74Glu) rs1603484048
NM_002473.6(MYH9):c.2403G>T (p.Lys801Asn) rs777484384
NM_002473.6(MYH9):c.2507C>T (p.Pro836Leu) rs1603483077
NM_002473.6(MYH9):c.279C>G (p.Asn93Lys) rs121913655
NM_002473.6(MYH9):c.283G>A (p.Ala95Thr) rs1603484047
NM_002473.6(MYH9):c.287C>T (p.Ser96Leu) rs121913657
NM_002473.6(MYH9):c.3202_3222dup (p.Gln1068_Leu1074dup) rs1603482974
NM_002473.6(MYH9):c.3493C>T (p.Arg1165Cys) rs80338829
NM_002473.6(MYH9):c.3584C>T (p.Ser1195Leu) rs1603482935
NM_002473.6(MYH9):c.4262A>C (p.Glu1421Ala) rs1603482879
NM_002473.6(MYH9):c.4270G>A (p.Asp1424Asn) rs80338831
NM_002473.6(MYH9):c.4270G>T (p.Asp1424Tyr) rs80338831
NM_002473.6(MYH9):c.4271A>G (p.Asp1424Gly) rs867593888
NM_002473.6(MYH9):c.4340A>G (p.Asp1447Gly) rs797044804
NM_002473.6(MYH9):c.4340A>T (p.Asp1447Val) rs797044804
NM_002473.6(MYH9):c.4519G>C (p.Glu1507Gln) rs566978904
NM_002473.6(MYH9):c.4529T>G (p.Met1510Arg) rs1603482803
NM_002473.6(MYH9):c.4946A>G (p.Asp1649Gly) rs1603482754
NM_002473.6(MYH9):c.5032A>G (p.Met1678Val) rs901232499
NM_002473.6(MYH9):c.5521G>A (p.Glu1841Lys) rs80338834
NM_002473.6(MYH9):c.5770_5779del (p.Gly1924fs) rs1603482653
NM_002473.6(MYH9):c.5797C>T (p.Arg1933Ter) rs80338835
NM_002473.6(MYH9):c.5800del (p.Met1934fs) rs1603482652
NM_002473.6(MYH9):c.5808del (p.Gly1938fs) rs1603482650
NM_002473.6(MYH9):c.97T>G (p.Trp33Gly) rs1603484060
NM_002473.6(MYH9):c.99G>C (p.Trp33Cys) rs1603484059

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