ClinVar Miner

List of variants reported as pathogenic for hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome by Labcorp Genetics (formerly Invitae), Labcorp

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 48
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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.508C>T (p.Arg170Ter) rs750232956 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.4537C>T (p.Gln1513Ter) rs929311433 0.00002
NM_017534.6(MYH2):c.625G>T (p.Glu209Ter) rs1250462450 0.00002
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_000017.10:g.(?_10424597)_(10451237_?)del
NC_000017.11:g.(?_9794928)_(10547930_?)del
NC_000017.11:g.10535371_10535372insGGAGGGAGGAGCCAAGATGGCCGAATAGGAACAGCTCCGGTCTACAGCTCCCAGCGTGAGCGACGCAGAAGACGGTGATTTCTGCATTTCCATCTGAGGTACCGGGTTCANNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAATTCTCCTGTAA
NM_017534.6(MYH2):c.1719del (p.Gly574fs) rs2073494828
NM_017534.6(MYH2):c.1933_1940dup (p.Ser648fs)
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.2418del (p.Glu806fs)
NM_017534.6(MYH2):c.2461C>T (p.Gln821Ter) rs2142303605
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.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.4371+1del
NM_017534.6(MYH2):c.4420G>T (p.Glu1474Ter)
NM_017534.6(MYH2):c.4438del (p.Ala1480fs) rs2073340697
NM_017534.6(MYH2):c.4510del (p.Thr1503_Leu1504insTer)
NM_017534.6(MYH2):c.4511del (p.Leu1504fs) rs2142293598
NM_017534.6(MYH2):c.4756del (p.Asp1586fs)
NM_017534.6(MYH2):c.4810C>T (p.Gln1604Ter) rs772613828
NM_017534.6(MYH2):c.4842del (p.Asn1615fs) rs2073330917
NM_017534.6(MYH2):c.4894G>T (p.Glu1632Ter)
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.5673+1G>C rs1400481053
NM_017534.6(MYH2):c.732_738dup (p.Phe247fs)
NM_017534.6(MYH2):c.904+1G>A rs879255253

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