ClinVar Miner

List of variants reported as likely benign for Hypertrophic cardiomyopathy 25; Primary familial hypertrophic cardiomyopathy

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 69
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_003673.4(TCAP):c.32C>T (p.Ser11Leu) rs45495192 0.00113
NM_003673.4(TCAP):c.353C>T (p.Ala118Val) rs143233087 0.00092
NM_003673.4(TCAP):c.60C>G (p.Ala20=) rs146502276 0.00034
NM_003673.4(TCAP):c.458G>A (p.Arg153His) rs149585781 0.00021
NM_003673.4(TCAP):c.270G>A (p.Pro90=) rs372538567 0.00017
NM_003673.4(TCAP):c.132C>T (p.Asp44=) rs397516861 0.00006
NM_003673.4(TCAP):c.402T>G (p.Ala134=) rs772083153 0.00004
NM_003673.4(TCAP):c.447C>T (p.Pro149=) rs45614332 0.00004
NM_003673.4(TCAP):c.54G>C (p.Arg18=) rs754054712 0.00004
NM_003673.4(TCAP):c.111-17C>T rs567350904 0.00003
NM_003673.4(TCAP):c.261G>T (p.Arg87=) rs375389509 0.00003
NM_003673.4(TCAP):c.87A>G (p.Thr29=) rs144741021 0.00003
NM_003673.4(TCAP):c.178C>T (p.Leu60=) rs549769566 0.00002
NM_003673.4(TCAP):c.267G>A (p.Leu89=) rs1419129039 0.00002
NM_003673.4(TCAP):c.279C>T (p.Ile93=) rs144149447 0.00002
NM_003673.4(TCAP):c.33G>A (p.Ser11=) rs762224660 0.00002
NM_003673.4(TCAP):c.102C>T (p.Pro34=) rs1060504770 0.00001
NM_003673.4(TCAP):c.108G>A (p.Glu36=) rs748882218 0.00001
NM_003673.4(TCAP):c.168G>A (p.Gln56=) rs1060504769 0.00001
NM_003673.4(TCAP):c.186G>A (p.Gln62=) rs1201846776 0.00001
NM_003673.4(TCAP):c.195C>G (p.Pro65=) rs370118201 0.00001
NM_003673.4(TCAP):c.225C>T (p.Gly75=) rs754744780 0.00001
NM_003673.4(TCAP):c.24C>T (p.Cys8=) rs756548785 0.00001
NM_003673.4(TCAP):c.282C>T (p.Phe94=) rs749565002 0.00001
NM_003673.4(TCAP):c.300C>T (p.Gly100=) rs187261074 0.00001
NM_003673.4(TCAP):c.390C>G (p.Arg130=) rs1314875137 0.00001
NM_003673.4(TCAP):c.423C>T (p.Pro141=) rs1360918794 0.00001
NM_003673.4(TCAP):c.483C>T (p.Ser161=) rs1213356091 0.00001
NM_003673.4(TCAP):c.102C>G (p.Pro34=) rs1060504770
NM_003673.4(TCAP):c.110+15G>T
NM_003673.4(TCAP):c.110+16C>G rs762433998
NM_003673.4(TCAP):c.110+18A>G rs1414763689
NM_003673.4(TCAP):c.110+8T>G
NM_003673.4(TCAP):c.111-14T>A
NM_003673.4(TCAP):c.111-15C>G
NM_003673.4(TCAP):c.111-15C>T
NM_003673.4(TCAP):c.111-16C>T rs199865814
NM_003673.4(TCAP):c.117C>T (p.Ser39=) rs759893644
NM_003673.4(TCAP):c.129G>A (p.Glu43=) rs1279340835
NM_003673.4(TCAP):c.165G>C (p.Gly55=)
NM_003673.4(TCAP):c.192G>A (p.Ser64=) rs771585295
NM_003673.4(TCAP):c.192G>T (p.Ser64=) rs771585295
NM_003673.4(TCAP):c.199C>T (p.Leu67=)
NM_003673.4(TCAP):c.201G>A (p.Leu67=) rs1567865110
NM_003673.4(TCAP):c.208C>A (p.Arg70=) rs775636212
NM_003673.4(TCAP):c.222C>T (p.Leu74=)
NM_003673.4(TCAP):c.225C>A (p.Gly75=)
NM_003673.4(TCAP):c.240G>A (p.Glu80=) rs758101613
NM_003673.4(TCAP):c.247C>T (p.Leu83=) rs1597805549
NM_003673.4(TCAP):c.276C>T (p.Pro92=) rs147979713
NM_003673.4(TCAP):c.291C>G (p.Ala97=)
NM_003673.4(TCAP):c.330C>A (p.Pro110=) rs2145073932
NM_003673.4(TCAP):c.33G>C (p.Ser11=)
NM_003673.4(TCAP):c.33G>T (p.Ser11=) rs762224660
NM_003673.4(TCAP):c.346C>T (p.Leu116=) rs876657586
NM_003673.4(TCAP):c.34GAG[1] (p.Glu13del) rs397516862
NM_003673.4(TCAP):c.354G>A (p.Ala118=) rs1453601187
NM_003673.4(TCAP):c.354G>T (p.Ala118=) rs1453601187
NM_003673.4(TCAP):c.36G>A (p.Glu12=) rs2145072224
NM_003673.4(TCAP):c.381T>C (p.Cys127=) rs1597805687
NM_003673.4(TCAP):c.387C>T (p.Asp129=) rs768942598
NM_003673.4(TCAP):c.420G>T (p.Leu140=) rs2145074488
NM_003673.4(TCAP):c.426T>G (p.Pro142=) rs1397854344
NM_003673.4(TCAP):c.435T>G (p.Pro145=)
NM_003673.4(TCAP):c.468G>C (p.Leu156=) rs1481082968
NM_003673.4(TCAP):c.78G>A (p.Lys26=)
NM_003673.4(TCAP):c.82C>T (p.Leu28=)
NM_003673.4(TCAP):c.87A>C (p.Thr29=) rs144741021
NM_003673.4(TCAP):c.93C>A (p.Ser31=)

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.