ClinVar Miner

List of variants reported as uncertain significance for hypertrophic cardiomyopathy by Centre for Mendelian Genomics, University Medical Centre Ljubljana

Included ClinVar conditions (244):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 50
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HGVS dbSNP gnomAD frequency
NM_002471.4(MYH6):c.2807C>T (p.Ala936Val) rs199838024 0.00067
NM_032578.4(MYPN):c.3833G>A (p.Arg1278Gln) rs142877365 0.00052
NM_133379.5(TTN):c.13364A>G (p.Lys4455Arg) rs142304137 0.00029
NM_144573.4(NEXN):c.893C>G (p.Thr298Arg) rs200753280 0.00016
NM_001458.5(FLNC):c.3242C>T (p.Ala1081Val) rs200169573 0.00014
NM_001103.4(ACTN2):c.1040C>T (p.Thr347Met) rs727504590 0.00013
NM_016203.4(PRKAG2):c.425C>T (p.Thr142Ile) rs397517270 0.00010
NM_001458.5(FLNC):c.3623C>T (p.Ala1208Val) rs202184162 0.00009
NM_005921.2(MAP3K1):c.1510G>A (p.Glu504Lys) rs764525244 0.00008
NM_001122630.2(CDKN1C):c.-10-7T>C rs201715947 0.00004
NM_001458.5(FLNC):c.7256C>T (p.Thr2419Met) rs199768217 0.00004
NM_001943.5(DSG2):c.593A>G (p.Tyr198Cys) rs786204291 0.00004
NM_007078.3(LDB3):c.2174T>A (p.Ile725Asn) rs748399477 0.00004
NM_000257.4(MYH7):c.5342G>A (p.Arg1781His) rs397516246 0.00002
NM_002471.4(MYH6):c.5111C>T (p.Ala1704Val) rs776961989 0.00002
NM_007078.3(LDB3):c.494G>A (p.Arg165Gln) rs61857115 0.00002
NM_000256.3(MYBPC3):c.1664T>C (p.Met555Thr) rs730880692 0.00001
NM_000256.3(MYBPC3):c.2815C>T (p.Arg939Trp) rs534366414 0.00001
NM_000256.3(MYBPC3):c.3142C>T (p.Arg1048Cys) rs11570113 0.00001
NM_000256.3(MYBPC3):c.817C>T (p.Arg273Cys) rs551119259 0.00001
NM_001458.5(FLNC):c.5293C>T (p.His1765Tyr) rs1263073740 0.00001
NM_030662.4(MAP2K2):c.661G>A (p.Asp221Asn) rs2041001051 0.00001
NM_032578.4(MYPN):c.1594G>A (p.Val532Met) rs760362375 0.00001
NM_000126.4(ETFA):c.379C>T (p.Leu127Phe) rs910012804
NM_000238.4(KCNH2):c.1394T>C (p.Val465Ala) rs1057518876
NM_000256.3(MYBPC3):c.1010C>T (p.Ala337Val) rs1356431718
NM_000256.3(MYBPC3):c.2432AGA[3] (p.Lys814del) rs727504288
NM_000256.3(MYBPC3):c.3413G>C (p.Arg1138Pro) rs187705120
NM_000256.3(MYBPC3):c.3785C>T (p.Ala1262Val) rs2095877651
NM_000257.4(MYH7):c.1224T>A (p.Asn408Lys) rs1057518877
NM_000257.4(MYH7):c.5122G>A (p.Glu1708Lys) rs1057518857
NM_001458.5(FLNC):c.2485T>G (p.Phe829Val) rs758056957
NM_001458.5(FLNC):c.3799C>G (p.Arg1267Gly) rs371483562
NM_001458.5(FLNC):c.7251+15T>G rs1585170629
NM_001458.5(FLNC):c.790C>G (p.Pro264Ala) rs1808143178
NM_001458.5(FLNC):c.7921C>T (p.Arg2641Trp) rs750629528
NM_002471.4(MYH6):c.5364G>A (p.Met1788Ile) rs1890963680
NM_002635.4(SLC25A3):c.49C>G (p.Pro17Ala) rs1294003725
NM_002834.5(PTPN11):c.1739A>G (p.Tyr580Cys) rs2038914051
NM_002834.5(PTPN11):c.643-6G>A rs780387568
NM_002880.4(RAF1):c.332G>A (p.Arg111His) rs996417348
NM_003476.5(CSRP3):c.-28-17G>T rs1850633333
NM_004333.6(BRAF):c.1146G>C (p.Leu382Phe) rs1801519948
NM_004333.6(BRAF):c.67A>G (p.Met23Val) rs1818671266
NM_004333.6(BRAF):c.712-221T>C rs1803141356
NM_004333.6(BRAF):c.789_790del (p.Cys264fs) rs1803104915
NM_007078.3(LDB3):c.1678G>A (p.Gly560Ser) rs1846936455
NM_032578.4(MYPN):c.2863C>T (p.Arg955Trp) rs149887823
NM_032578.4(MYPN):c.3158+14G>A rs2043590750
NM_033118.4(MYLK2):c.1402A>G (p.Met468Val) rs2062304337

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