ClinVar Miner

List of variants studied for hypertrophic cardiomyopathy by Clinical Genomics Laboratory, Washington University in St. Louis

Included ClinVar conditions (244):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 29
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000535.7(PMS2):c.137G>T (p.Ser46Ile) rs121434629 0.00018
NM_006767.4(LZTR1):c.410C>A (p.Thr137Asn) rs146627447 0.00010
NM_006767.4(LZTR1):c.1855C>T (p.Arg619Cys) rs373488966 0.00008
NM_000256.3(MYBPC3):c.1624G>C (p.Glu542Gln) rs121909374 0.00006
NM_000256.3(MYBPC3):c.3330+2T>G rs387906397 0.00004
NM_001122630.2(CDKN1C):c.-10-7T>C rs201715947 0.00004
NM_001267550.2(TTN):c.106927G>A (p.Val35643Ile) rs754459138 0.00004
NM_001281740.3(FHOD3):c.1913G>A (p.Arg638Gln) rs780516974 0.00004
NM_006767.4(LZTR1):c.1183G>A (p.Val395Ile) rs373591504 0.00004
NM_006767.4(LZTR1):c.1403G>A (p.Arg468His) rs146427018 0.00004
NM_006767.4(LZTR1):c.1556G>A (p.Arg519Gln) rs149502567 0.00003
NM_000256.3(MYBPC3):c.1123G>A (p.Val375Met) rs727503208 0.00002
NM_001267550.2(TTN):c.16391G>C (p.Gly5464Ala) rs377023302 0.00002
NM_000256.3(MYBPC3):c.3226_3227insT (p.Asp1076fs) rs397516008 0.00001
NM_002834.5(PTPN11):c.1403C>T (p.Thr468Met) rs121918457 0.00001
NM_006767.4(LZTR1):c.1260+1G>A rs143868364 0.00001
NM_006767.4(LZTR1):c.485G>A (p.Trp162Ter) rs1458120855 0.00001
NM_007373.4(SHOC2):c.743A>G (p.Asn248Ser) rs374067666 0.00001
NM_000257.4(MYH7):c.3480G>C (p.Gln1160His)
NM_001267550.2(TTN):c.100994G>A (p.Gly33665Asp)
NM_001267550.2(TTN):c.29863C>T (p.Arg9955Ter)
NM_002755.4(MAP2K1):c.1023-4T>A
NM_002755.4(MAP2K1):c.646A>G (p.Ile216Val)
NM_005633.4(SOS1):c.2167+5dup
NM_006767.4(LZTR1):c.1430C>G (p.Ala477Gly)
NM_006767.4(LZTR1):c.1720G>A (p.Val574Met)
NM_006767.4(LZTR1):c.1996T>G (p.Phe666Val)
NM_006939.4(SOS2):c.3305T>G (p.Val1102Gly)
NM_007373.4(SHOC2):c.519G>A (p.Met173Ile) rs730881020

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.