ClinVar Miner

List of variants studied for cardiomyopathy by Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen

Included ClinVar conditions (559):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 29
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001943.5(DSG2):c.1003A>G (p.Thr335Ala) rs191564916 0.00060
NM_000256.3(MYBPC3):c.1591G>C (p.Gly531Arg) rs397515912 0.00006
NM_000152.5(GAA):c.1655T>C (p.Leu552Pro) rs779556619 0.00004
NM_000152.5(GAA):c.307T>G (p.Cys103Gly) rs398123174 0.00003
NM_002834.5(PTPN11):c.1282G>A (p.Val428Met) rs397507536 0.00003
NM_002834.5(PTPN11):c.794G>A (p.Arg265Gln) rs376607329 0.00003
NM_001267550.2(TTN):c.53743C>T (p.Arg17915Ter) rs753333359 0.00001
NM_001267550.2(TTN):c.95562G>C (p.Trp31854Cys) rs752756889 0.00001
NM_002834.5(PTPN11):c.1508G>A (p.Gly503Glu) rs397507546 0.00001
NM_000152.5(GAA):c.2269C>T (p.Gln757Ter) rs200483245
NM_000256.3(MYBPC3):c.1383_1384dup (p.Asp462fs) rs2095890455
NM_000256.3(MYBPC3):c.913_914delTT rs397516080
NM_000257.4(MYH7):c.1925C>T (p.Ser642Leu) rs121913646
NM_000257.4(MYH7):c.4159G>A (p.Glu1387Lys) rs730880792
NM_000257.4(MYH7):c.4943del (p.Ser1648fs)
NM_001267550.2(TTN):c.72963_72964del (p.Val24321_Phe24322insTer) rs1708864326
NM_001927.4(DES):c.821T>C (p.Leu274Pro) rs267607494
NM_002524.5(NRAS):c.108A>G (p.Ile36Met) rs2101743991
NM_002709.3(PPP1CB):c.493G>C (p.Asp165His)
NM_002834.5(PTPN11):c.181G>C (p.Asp61His) rs397507510
NM_002834.5(PTPN11):c.215C>G (p.Ala72Gly) rs121918454
NM_002834.5(PTPN11):c.923A>C (p.Asn308Thr) rs121918455
NM_002880.4(RAF1):c.1423T>C (p.Phe475Leu) rs730881003
NM_004415.4(DSP):c.3133C>T (p.Arg1045Ter) rs1554108012
NM_004959.5(NR5A1):c.1106_1109del (p.Val369fs)
NM_005633.4(SOS1):c.1655G>A (p.Arg552Lys) rs397517154
NM_006767.4(LZTR1):c.742G>A (p.Gly248Arg) rs869320686
NM_006912.6(RIT1):c.244T>G (p.Phe82Val) rs869025194
NM_170707.4(LMNA):c.1340AGG[1] (p.Glu448del)

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.