ClinVar Miner

List of variants in gene combination MYH2, MYHAS reported as pathogenic

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Gene type:
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Total variants: 43
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HGVS dbSNP gnomAD frequency
NM_017534.6(MYH2):c.2405T>A (p.Leu802Ter) rs758395765 0.00018
NM_017534.6(MYH2):c.1975-2A>G rs746770617 0.00003
NM_017534.6(MYH2):c.2347C>T (p.Arg783Ter) rs762121316 0.00002
NM_017534.6(MYH2):c.2377C>T (p.Arg793Ter) rs545623839 0.00002
NM_017534.6(MYH2):c.2725G>T (p.Glu909Ter) rs780124402 0.00002
NM_017534.6(MYH2):c.3331C>T (p.Gln1111Ter) rs758264018 0.00002
NM_017534.6(MYH2):c.1920del (p.Gly642fs) rs1230553094 0.00001
NM_017534.6(MYH2):c.2173A>T (p.Lys725Ter) rs1027921042 0.00001
NM_017534.6(MYH2):c.52C>T (p.Arg18Ter) rs769712128 0.00001
NC_000017.11:g.10535371_10535372insGGAGGGAGGAGCCAAGATGGCCGAATAGGAACAGCTCCGGTCTACAGCTCCCAGCGTGAGCGACGCAGAAGACGGTGATTTCTGCATTTCCATCTGAGGTACCGGGTTCANNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAATTCTCCTGTAA
NM_017534.6(MYH2):c.1719del (p.Gly574fs) rs2073494828
NM_017534.6(MYH2):c.1925del (p.Gly642fs) rs2142309612
NM_017534.6(MYH2):c.1933_1940dup (p.Ser648fs)
NM_017534.6(MYH2):c.2116G>A (p.Glu706Lys) rs121434589
NM_017534.6(MYH2):c.2176C>T (p.Gln726Ter)
NM_017534.6(MYH2):c.2219_2220del (p.Gln740fs)
NM_017534.6(MYH2):c.2365del (p.Gln789fs) rs2142305450
NM_017534.6(MYH2):c.2400del (p.Phe801fs) rs879255254
NM_017534.6(MYH2):c.2418del (p.Glu806fs)
NM_017534.6(MYH2):c.2461C>T (p.Gln821Ter) rs2142303605
NM_017534.6(MYH2):c.2530_2532delinsAAGAGTGCAGAAA (p.Pro844fs)
NM_017534.6(MYH2):c.2672dup (p.Asn891fs) rs763860580
NM_017534.6(MYH2):c.2956dup (p.Glu986fs)
NM_017534.6(MYH2):c.3014del (p.Leu1005fs) rs1567730339
NM_017534.6(MYH2):c.3019G>T (p.Glu1007Ter) rs1226690028
NM_017534.6(MYH2):c.3126del (p.Ser1043fs)
NM_017534.6(MYH2):c.3205del (p.Gln1069fs) rs2142299866
NM_017534.6(MYH2):c.3238C>T (p.Gln1080Ter) rs1007918379
NM_017534.6(MYH2):c.3291_3315del (p.Gln1097fs)
NM_017534.6(MYH2):c.3467_3476del (p.Leu1156fs)
NM_017534.6(MYH2):c.3652C>T (p.Arg1218Ter) rs1187271694
NM_017534.6(MYH2):c.3697G>T (p.Glu1233Ter)
NM_017534.6(MYH2):c.3757A>T (p.Lys1253Ter) rs2142297044
NM_017534.6(MYH2):c.4302_4303insG (p.Met1435fs)
NM_017534.6(MYH2):c.430C>T (p.Arg144Ter)
NM_017534.6(MYH2):c.4352del (p.Lys1451fs) rs757195322
NM_017534.6(MYH2):c.5332del (p.Glu1778fs)
NM_017534.6(MYH2):c.5554C>T (p.Arg1852Ter)
NM_017534.6(MYH2):c.5594_5597del (p.Lys1865fs) rs1567726515
NM_017534.6(MYH2):c.5609T>C (p.Leu1870Pro) rs786201023
NM_017534.6(MYH2):c.5630T>C (p.Leu1877Pro) rs2142289928
NM_017534.6(MYH2):c.5673+1G>C rs1400481053
NM_017534.6(MYH2):c.904+1G>A rs879255253

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