ClinVar Miner

Variants in gene combination MYH2, MYHAS with conflicting interpretations reported as "uncertain significance and "likely benign"

Submission 1 (uncertain significance) minimum review status: Submission 1 (uncertain significance) method:
Submission 2 (likely benign) minimum review status: Submission 2 (likely benign) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 24
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_017534.6(MYH2):c.3181C>G (p.Leu1061Val) rs142586585 0.00225
NM_017534.6(MYH2):c.3127T>G (p.Ser1043Ala) rs11658164 0.00123
NM_017534.6(MYH2):c.2270T>C (p.Ile757Thr) rs117390537 0.00103
NM_017534.6(MYH2):c.3884G>A (p.Arg1295His) rs143341678 0.00063
NM_017534.6(MYH2):c.5820A>G (p.Glu1940=) rs140527143 0.00052
NM_017534.6(MYH2):c.87T>C (p.Asn29=) rs148217318 0.00050
NM_017534.6(MYH2):c.1898-3C>T rs370752980 0.00044
NM_017534.6(MYH2):c.332C>T (p.Ala111Val) rs140468333 0.00040
NM_017534.6(MYH2):c.4304T>C (p.Met1435Thr) rs139691540 0.00019
NM_017534.6(MYH2):c.3615T>C (p.Ser1205=) rs751186949 0.00011
NM_017534.6(MYH2):c.1566C>T (p.Ala522=) rs142383679 0.00010
NM_017534.6(MYH2):c.1959G>A (p.Val653=) rs376346567 0.00010
NM_017534.6(MYH2):c.2266G>A (p.Asp756Asn) rs202198533 0.00010
NM_017534.6(MYH2):c.4149G>A (p.Thr1383=) rs376738763 0.00008
NM_017534.6(MYH2):c.3384C>T (p.Ile1128=) rs139130605 0.00007
NM_017534.6(MYH2):c.1227C>T (p.Val409=) rs563146441 0.00006
NM_017534.6(MYH2):c.2655G>A (p.Thr885=) rs141764966 0.00003
NM_017534.6(MYH2):c.1251C>A (p.Gly417=) rs746987085 0.00001
NM_017534.6(MYH2):c.2305-11T>G rs369500791 0.00001
NM_017534.6(MYH2):c.3263+11A>G rs890845570 0.00001
NM_017534.6(MYH2):c.1068G>C (p.Thr356=) rs116419997
NM_017534.6(MYH2):c.2478C>T (p.Ser826=) rs2073428153
NM_017534.6(MYH2):c.3517C>A (p.Arg1173=) rs767243766
NM_017534.6(MYH2):c.4204C>T (p.Arg1402Trp)

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.