List of variants in gene combination MYH2, MYHAS reported as uncertain significance for Inclusion Body Myopathy, Dominant

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 28

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HGVS	dbSNP	gnomAD frequency
NM_017534.6(MYH2):c.87T>C (p.Asn29=)	rs148217318	0.00050
NM_017534.6(MYH2):c.3128C>T (p.Ser1043Phe)	rs200217946	0.00026
NM_017534.6(MYH2):c.2626A>G (p.Arg876Gly)	rs201784718	0.00016
NM_017534.6(MYH2):c.205-3C>T	rs371123671	0.00008
NM_017534.6(MYH2):c.4149G>A (p.Thr1383=)	rs376738763	0.00008
NM_017534.6(MYH2):c.1227C>T (p.Val409=)	rs563146441	0.00006
NM_017534.6(MYH2):c.3709C>T (p.Leu1237Phe)	rs138265883	0.00006
NM_017534.6(MYH2):c.4110C>T (p.Ala1370=)	rs377674160	0.00005
NM_017534.6(MYH2):c.-60T>C	rs886052575	0.00003
NM_017534.6(MYH2):c.1416+9G>A	rs753547111	0.00003
NM_017534.6(MYH2):c.2655G>A (p.Thr885=)	rs141764966	0.00003
NM_017534.6(MYH2):c.3489T>C (p.Thr1163=)	rs780067831	0.00003
NM_017534.6(MYH2):c.3299T>C (p.Ile1100Thr)	rs769463886	0.00002
NM_017534.6(MYH2):c.122C>T (p.Ala41Val)	rs765877777	0.00001
NM_017534.6(MYH2):c.1711G>A (p.Val571Met)	rs778226679	0.00001
NM_017534.6(MYH2):c.2654C>T (p.Thr885Met)	rs150566222	0.00001
NM_017534.6(MYH2):c.3358C>T (p.Arg1120Cys)	rs756255059	0.00001
NM_017534.6(MYH2):c.3567A>G (p.Leu1189=)	rs886052565	0.00001
NM_017534.6(MYH2):c.5294T>A (p.Ile1765Asn)	rs139621607	0.00001
NM_017534.6(MYH2):c.-10T>C	rs886052574
NM_017534.6(MYH2):c.1068G>A (p.Thr356=)	rs116419997
NM_017534.6(MYH2):c.1644C>A (p.Asp548Glu)	rs886052569
NM_017534.6(MYH2):c.2331G>T (p.Gly777=)	rs886052567
NM_017534.6(MYH2):c.2396G>C (p.Arg799Thr)	rs754150715
NM_017534.6(MYH2):c.301G>C (p.Ala101Pro)	rs886052573
NM_017534.6(MYH2):c.3263+12_3263+15del	rs573872374
NM_017534.6(MYH2):c.4007C>T (p.Ala1336Val)	rs138470281
NM_017534.6(MYH2):c.495C>A (p.Phe165Leu)	rs886052572

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