ClinVar Miner

List of variants reported as uncertain significance by Laboratory of Genetics and Molecular Cardiology, University of São Paulo

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 137
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_003476.5(CSRP3):c.10T>C (p.Trp4Arg) rs45550635 0.00271
NM_002471.4(MYH6):c.3010G>T (p.Ala1004Ser) rs143978652 0.00110
NM_001134363.3(RBM20):c.2761A>G (p.Ile921Val) rs397516608 0.00010
NM_000335.5(SCN5A):c.2314G>A (p.Asp772Asn) rs199473157 0.00001
FH Bologna 2
NM_000256.3(MYBPC3):c.2905+1G>A rs397515991
NM_000258.3(MYL3):c.466G>T (p.Val156Leu) rs199474707
NM_000335.5(SCN5A):c.3664G>C (p.Ala1222Pro) rs863225118
NM_000363.5(TNNI3):c.596G>A (p.Ser199Asn) rs730881091
NM_000384.3(APOB):c.10061C>G (p.Ala3354Gly)
NM_000384.3(APOB):c.10583C>T (p.Ser3528Phe)
NM_000384.3(APOB):c.10672C>T (p.Arg3558Cys)
NM_000384.3(APOB):c.10780T>C (p.Trp3594Arg)
NM_000384.3(APOB):c.11401T>A (p.Ser3801Thr)
NM_000384.3(APOB):c.1166A>G (p.Gln389Arg)
NM_000384.3(APOB):c.11761G>A (p.Val3921Ile)
NM_000384.3(APOB):c.1223T>C (p.Ile408Thr)
NM_000384.3(APOB):c.12382G>A (p.Val4128Met)
NM_000384.3(APOB):c.12697T>A (p.Ser4233Thr)
NM_000384.3(APOB):c.12824A>C (p.Asp4275Ala)
NM_000384.3(APOB):c.12940A>G (p.Ile4314Val)
NM_000384.3(APOB):c.1310G>A (p.Arg437His)
NM_000384.3(APOB):c.13441G>A (p.Ala4481Thr)
NM_000384.3(APOB):c.13451C>T (p.Thr4484Met)
NM_000384.3(APOB):c.13555A>G (p.Arg4519Gly)
NM_000384.3(APOB):c.154T>C (p.Tyr52His)
NM_000384.3(APOB):c.1594C>T (p.Arg532Trp)
NM_000384.3(APOB):c.1661C>T (p.Pro554Leu)
NM_000384.3(APOB):c.2188G>A (p.Val730Ile)
NM_000384.3(APOB):c.2222C>A (p.Thr741Asn)
NM_000384.3(APOB):c.2863C>T (p.Pro955Ser)
NM_000384.3(APOB):c.2968G>A (p.Ala990Thr)
NM_000384.3(APOB):c.2981C>T (p.Pro994Leu)
NM_000384.3(APOB):c.307T>C (p.Tyr103His)
NM_000384.3(APOB):c.3427C>T (p.Pro1143Ser)
NM_000384.3(APOB):c.3490A>G (p.Arg1164Gly)
NM_000384.3(APOB):c.3634C>A (p.Leu1212Met)
NM_000384.3(APOB):c.3850C>T (p.Arg1284Trp)
NM_000384.3(APOB):c.4265G>A (p.Cys1422Tyr)
NM_000384.3(APOB):c.433C>T (p.Pro145Ser)
NM_000384.3(APOB):c.4663A>G (p.Ile1555Val)
NM_000384.3(APOB):c.5066G>A (p.Arg1689His)
NM_000384.3(APOB):c.6636TGA[1] (p.Asp2213del) rs541497967
NM_000384.3(APOB):c.6895G>C (p.Asp2299His)
NM_000384.3(APOB):c.6937= (p.Ile2313=)
NM_000384.3(APOB):c.7285T>A (p.Ser2429Thr)
NM_000384.3(APOB):c.7367C>A (p.Ala2456Asp)
NM_000384.3(APOB):c.9175C>T (p.Arg3059Cys)
NM_000384.3(APOB):c.9835A>G (p.Ser3279Gly)
NM_000384.3(APOB):c.9880T>C (p.Ser3294Pro)
NM_000527.4(LDLR):c.-140C>A
NM_000527.4(LDLR):c.-187-?_940+?dup
NM_000527.4(LDLR):c.-228G>C
NM_000527.4(LDLR):c.-88G>A
NM_000527.5(LDLR):c.1009_1014del (p.Glu337_Cys338del)
NM_000527.5(LDLR):c.1024G>A (p.Asp342Asn)
NM_000527.5(LDLR):c.1027G>A (p.Gly343Ser)
NM_000527.5(LDLR):c.1036C>G (p.Leu346Val)
NM_000527.5(LDLR):c.1057G>A (p.Glu353Lys)
NM_000527.5(LDLR):c.1060+10G>A
NM_000527.5(LDLR):c.1060+7=
NM_000527.5(LDLR):c.1069G>C (p.Glu357Gln)
NM_000527.5(LDLR):c.1090T>C (p.Cys364Arg)
NM_000527.5(LDLR):c.1103G>A (p.Cys368Tyr)
NM_000527.5(LDLR):c.1175G>A (p.Cys392Tyr)
NM_000527.5(LDLR):c.1201C>G (p.Leu401Val)
NM_000527.5(LDLR):c.1224G>C (p.Glu408Asp)
NM_000527.5(LDLR):c.1358+10G>A
NM_000527.5(LDLR):c.1359-6C>T
NM_000527.5(LDLR):c.139G>A (p.Asp47Asn)
NM_000527.5(LDLR):c.1432G>A (p.Gly478Arg)
NM_000527.5(LDLR):c.1474G>A (p.Asp492Asn)
NM_000527.5(LDLR):c.1546G>A (p.Gly516Ser)
NM_000527.5(LDLR):c.1565T>G (p.Ile522Ser)
NM_000527.5(LDLR):c.1570G>A (p.Val524Met)
NM_000527.5(LDLR):c.1577C>T (p.Pro526Leu)
NM_000527.5(LDLR):c.1585G>C (p.Gly529Arg)
NM_000527.5(LDLR):c.1586+12C>T
NM_000527.5(LDLR):c.1586+16G>A
NM_000527.5(LDLR):c.1721G>A (p.Arg574His)
NM_000527.5(LDLR):c.1783C>T (p.Arg595Trp)
NM_000527.5(LDLR):c.1837G>A (p.Val613Ile)
NM_000527.5(LDLR):c.185C>T (p.Thr62Met)
NM_000527.5(LDLR):c.1876G>A (p.Glu626Lys)
NM_000527.5(LDLR):c.1982C>T (p.Pro661Leu)
NM_000527.5(LDLR):c.2017A>C (p.Ser673Arg)
NM_000527.5(LDLR):c.2041T>A (p.Cys681Ser)
NM_000527.5(LDLR):c.2096C>T (p.Pro699Leu)
NM_000527.5(LDLR):c.2133C>G (p.Cys711Trp)
NM_000527.5(LDLR):c.2140+30G>A
NM_000527.5(LDLR):c.2149G>A (p.Ala717Thr)
NM_000527.5(LDLR):c.2184G>C (p.Arg728Ser)
NM_000527.5(LDLR):c.2231G>A (p.Arg744Gln)
NM_000527.5(LDLR):c.2249C>T (p.Ser750Phe)
NM_000527.5(LDLR):c.2311G>A (p.Ala771Thr)
NM_000527.5(LDLR):c.2312C>T (p.Ala771Val)
NM_000527.5(LDLR):c.2389+14G>A
NM_000527.5(LDLR):c.2389+41C>A
NM_000527.5(LDLR):c.2389+7G>A
NM_000527.5(LDLR):c.241C>T (p.Arg81Cys)
NM_000527.5(LDLR):c.2441G>A (p.Arg814Gln)
NM_000527.5(LDLR):c.245G>C (p.Cys82Ser)
NM_000527.5(LDLR):c.2479G>A (p.Val827Ile) rs137853964
NM_000527.5(LDLR):c.2548-19G>A
NM_000527.5(LDLR):c.2548-23C>T
NM_000527.5(LDLR):c.2560A>G (p.Ser854Gly)
NM_000527.5(LDLR):c.313+5G>A
NM_000527.5(LDLR):c.4G>C (p.Gly2Arg)
NM_000527.5(LDLR):c.694+25C>T
NM_000527.5(LDLR):c.757C>T (p.Arg253Trp)
NM_000527.5(LDLR):c.769C>T (p.Arg257Trp)
NM_000527.5(LDLR):c.817+9T>C
NM_000527.5(LDLR):c.829G>A (p.Glu277Lys)
NM_000527.5(LDLR):c.853C>T (p.His285Tyr)
NM_000527.5(LDLR):c.871A>C (p.Thr291Pro)
NM_000527.5(LDLR):c.940+9C>T
NM_000527.5(LDLR):c.941-39C>T
NM_000527.5(LDLR):c.941-4G>A
NM_000527.5(LDLR):c.970G>A (p.Gly324Ser)
NM_001103.4(ACTN2):c.1226A>G (p.Lys409Arg) rs863225115
NM_001458.5(FLNC):c.3689A>G (p.Tyr1230Cys) rs863225116
NM_033118.4(MYLK2):c.281C>G (p.Pro94Arg) rs201134349
NM_174936.4(PCSK9):c.1180G>A (p.Gly394Ser)
NM_174936.4(PCSK9):c.1327G>A (p.Ala443Thr)
NM_174936.4(PCSK9):c.1405C>T (p.Arg469Trp)
NM_174936.4(PCSK9):c.1547G>T (p.Gly516Val)
NM_174936.4(PCSK9):c.1658A>G (p.His553Arg)
NM_174936.4(PCSK9):c.1660C>G (p.Gln554Glu)
NM_174936.4(PCSK9):c.1856A>C (p.Gln619Pro)
NM_174936.4(PCSK9):c.1958C>T (p.Thr653Met)
NM_174936.4(PCSK9):c.1979A>C (p.Asp660Ala)
NM_174936.4(PCSK9):c.45GCT[6] (p.Leu23del)
NM_174936.4(PCSK9):c.94G>A (p.Glu32Lys)
NM_182961.4(SYNE1):c.12362_12363delinsGT (p.Lys4121Ser) rs386707192
c.(1586+1_1587-1)_(1845+1_1846-1)dup
c.(190+1_191-1)_(694+1_695-1)dup
c.(313+1_314-1)_(1186+1_1187-1)dup

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.