ClinVar Miner

List of variants studied for hypertrophic cardiomyopathy by Genetics and Molecular Pathology, SA Pathology

Included ClinVar conditions (244):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 58
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000018.4(ACADVL):c.848T>C (p.Val283Ala) rs113994167 0.00116
NM_000256.3(MYBPC3):c.1504C>T (p.Arg502Trp) rs375882485 0.00010
NM_000257.4(MYH7):c.976G>C (p.Ala326Pro) rs372731424 0.00010
NM_000257.4(MYH7):c.4210G>A (p.Val1404Met) rs371552806 0.00006
NM_000256.3(MYBPC3):c.3123C>T (p.Gly1041=) rs374626656 0.00005
NM_003476.5(CSRP3):c.136A>C (p.Ser46Arg) rs137852765 0.00005
NM_000256.3(MYBPC3):c.772G>A (p.Glu258Lys) rs397516074 0.00004
NM_003476.5(CSRP3):c.436C>T (p.Arg146Cys) rs376198883 0.00004
NM_144573.4(NEXN):c.1053+1G>A rs397517843 0.00003
NM_000018.4(ACADVL):c.1358G>A (p.Arg453Gln) rs138058572 0.00002
NM_001458.5(FLNC):c.5156G>A (p.Arg1719His) rs746777092 0.00002
NC_000011.10:g.47335082_47335083del rs397515990 0.00001
NM_000018.4(ACADVL):c.1405C>T (p.Arg469Trp) rs113994170 0.00001
NM_000256.3(MYBPC3):c.1227-13G>A rs397515893 0.00001
NM_000257.4(MYH7):c.4787C>T (p.Ser1596Leu) rs774540446 0.00001
NM_000257.4(MYH7):c.853A>G (p.Ile285Val) rs748692506 0.00001
NM_001018005.2(TPM1):c.82G>C (p.Asp28His) rs397516391 0.00001
NM_001276345.2(TNNT2):c.145G>A (p.Glu49Lys) rs757526942 0.00001
NM_001458.5(FLNC):c.5191C>T (p.His1731Tyr) rs1255727604 0.00001
NM_002834.5(PTPN11):c.166A>G (p.Ile56Val) rs397507504 0.00001
NM_005159.5(ACTC1):c.967G>A (p.Ala323Thr) rs771011464 0.00001
NM_006767.4(LZTR1):c.361C>T (p.His121Tyr) rs1569154492 0.00001
NM_007078.3(LDB3):c.655C>T (p.Arg219Ter) rs727503123 0.00001
NM_000018.4(ACADVL):c.829_831del (p.Glu277del) rs796051913
NM_000256.3(MYBPC3):c.1224-19G>A rs587776699
NM_000256.3(MYBPC3):c.2067+1G>A rs1444727212
NM_000256.3(MYBPC3):c.2096delC rs397515947
NM_000256.3(MYBPC3):c.2309-2A>G rs111729952
NM_000256.3(MYBPC3):c.2449C>T (p.Arg817Trp) rs727503188
NM_000256.3(MYBPC3):c.2459G>C (p.Arg820Pro) rs2856655
NM_000256.3(MYBPC3):c.3357C>A (p.Tyr1119Ter) rs1565622952
NM_000256.3(MYBPC3):c.3471del (p.Val1158fs)
NM_000257.4(MYH7):c.1315A>G (p.Met439Val) rs370310929
NM_000257.4(MYH7):c.1987C>T (p.Arg663Cys) rs397516127
NM_000257.4(MYH7):c.2221G>T (p.Gly741Trp) rs121913632
NM_000257.4(MYH7):c.2631G>C (p.Met877Ile) rs1060505018
NM_000257.4(MYH7):c.2631G>T (p.Met877Ile) rs1060505018
NM_000257.4(MYH7):c.4493_4494delinsAT (p.Phe1498Tyr) rs2138645175
NM_000257.4(MYH7):c.4660G>A (p.Glu1554Lys) rs142694139
NM_000257.4(MYH7):c.983A>G (p.Glu328Gly)
NM_000258.3(MYL3):c.447G>T (p.Met149Ile) rs730880162
NM_000719.7(CACNA1C):c.1604T>C (p.Phe535Ser)
NM_002834.5(PTPN11):c.1391G>C (p.Gly464Ala) rs121918469
NM_002834.5(PTPN11):c.1510A>G (p.Met504Val) rs397507547
NM_002834.5(PTPN11):c.172A>G (p.Asn58Asp) rs397507505
NM_002834.5(PTPN11):c.215C>G (p.Ala72Gly) rs121918454
NM_002834.5(PTPN11):c.5C>T (p.Thr2Ile) rs267606990
NM_002834.5(PTPN11):c.767A>G (p.Gln256Arg) rs397507523
NM_002834.5(PTPN11):c.854T>C (p.Phe285Ser) rs121918463
NM_002834.5(PTPN11):c.923A>G (p.Asn308Ser) rs121918455
NM_002880.4(RAF1):c.775T>A (p.Ser259Thr) rs3730271
NM_003476.5(CSRP3):c.583T>C (p.Ter195Arg)
NM_004959.5(NR5A1):c.1090G>T (p.Asp364Tyr) rs2131277629
NM_005343.4(HRAS):c.173C>T (p.Thr58Ile) rs121917758
NM_005633.4(SOS1):c.1655G>C (p.Arg552Thr) rs397517154
NM_005633.4(SOS1):c.2764A>G (p.Ile922Val) rs780420674
NM_006767.4(LZTR1):c.1700G>A (p.Arg567His) rs372417941
NM_006912.6(RIT1):c.246T>G (p.Phe82Leu) rs730881014

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.