ClinVar Miner

List of variants reported as uncertain significance by Phosphorus, Inc.

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ClinVar version:
Total variants: 115
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HGVS dbSNP gnomAD frequency
NM_015627.3(LDLRAP1):c.712C>T (p.Arg238Trp) rs41291058 0.03285
NM_000384.3(APOB):c.3383G>A (p.Arg1128His) rs12713843 0.00356
NM_001308093.3(GATA4):c.825C>T (p.Cys275=) rs55980825 0.00275
NM_001037.5(SCN1B):c.448+193G>A rs66876876 0.00227
NM_000384.3(APOB):c.7615G>A (p.Val2539Ile) rs148170480 0.00210
NM_001267550.2(TTN):c.30718G>T (p.Val10240Phe) rs111671438 0.00153
NM_001032283.3(TMPO):c.565+1696C>T rs141443652 0.00142
NM_006440.5(TXNRD2):c.858G>C (p.Arg286Ser) rs201503021 0.00064
NM_013266.4(CTNNA3):c.1900G>A (p.Glu634Lys) rs77165728 0.00058
NM_001005242.3(PKP2):c.1379-2019C>T rs149930872 0.00049
NM_001378454.1(ALMS1):c.4329G>T (p.Leu1443Phe) rs192499639 0.00036
NM_001035.3(RYR2):c.13291G>A (p.Glu4431Lys) rs571985775 0.00028
NM_000335.5(SCN5A):c.1943C>T (p.Pro648Leu) rs45609733 0.00019
NM_001378454.1(ALMS1):c.9389C>G (p.Pro3130Arg) rs200586877 0.00017
NM_000138.5(FBN1):c.6380-3A>G rs567703513 0.00016
NM_024422.6(DSC2):c.1766T>C (p.Met589Thr) rs201856473 0.00016
NM_006514.4(SCN10A):c.4849G>T (p.Val1617Phe) rs375940680 0.00015
NM_024422.6(DSC2):c.1521-7C>T rs374810953 0.00015
NM_001267550.2(TTN):c.10115-4G>A rs367648529 0.00013
NM_000256.3(MYBPC3):c.1445C>T (p.Ala482Val) rs370285346 0.00011
NM_000256.3(MYBPC3):c.529C>T (p.Arg177Cys) rs193922385 0.00010
NM_001267550.2(TTN):c.266C>G (p.Ala89Gly) rs200165636 0.00010
NM_005633.4(SOS1):c.3418T>A (p.Leu1140Ile) rs375550588 0.00010
NM_000257.4(MYH7):c.5287G>A (p.Ala1763Thr) rs727504355 0.00009
NM_001267550.2(TTN):c.105383C>T (p.Ala35128Val) rs758458467 0.00007
NM_000130.5(F5):c.2557G>A (p.Gly853Ser) rs371753182 0.00006
NM_000384.3(APOB):c.2536T>A (p.Leu846Met) rs189880634 0.00006
NM_001267550.2(TTN):c.31456A>T (p.Ile10486Phe) rs772882862 0.00006
NM_004415.4(DSP):c.3304G>A (p.Gly1102Ser) rs2491079 0.00006
NM_004415.4(DSP):c.6452G>A (p.Arg2151Gln) rs367759510 0.00005
NM_000384.3(APOB):c.7330C>T (p.Arg2444Cys) rs754565622 0.00004
NM_004415.4(DSP):c.4490G>A (p.Arg1497Gln) rs727505037 0.00004
NM_000257.4(MYH7):c.3100-2A>C rs759013925 0.00003
NM_000312.4(PROC):c.31G>A (p.Val11Met) rs368493458 0.00003
NM_001042492.3(NF1):c.7910G>A (p.Arg2637Gln) rs560262404 0.00003
NM_001103.4(ACTN2):c.1507G>T (p.Ala503Ser) rs1057460296 0.00003
NM_001134363.3(RBM20):c.2905G>A (p.Val969Ile) rs369747752 0.00003
NM_001458.5(FLNC):c.4413A>T (p.Gln1471His) rs765435961 0.00003
NM_018127.7(ELAC2):c.394G>A (p.Gly132Arg) rs374005835 0.00003
NM_001103.4(ACTN2):c.1081A>G (p.Met361Val) rs368409665 0.00002
NM_001134363.3(RBM20):c.2263C>T (p.Arg755Cys) rs770910910 0.00002
NM_001458.5(FLNC):c.4061G>A (p.Arg1354Gln) rs572132215 0.00002
NM_003098.3(SNTA1):c.620G>A (p.Arg207Gln) rs771180054 0.00002
NM_006258.4(PRKG1):c.299C>G (p.Pro100Arg) rs763629518 0.00002
NM_000138.5(FBN1):c.5875A>G (p.Asn1959Asp) rs956702513 0.00001
NM_000256.3(MYBPC3):c.1471G>A (p.Val491Met) rs730880543 0.00001
NM_000256.3(MYBPC3):c.3359G>A (p.Arg1120His) rs1297036943 0.00001
NM_000257.4(MYH7):c.4321G>T (p.Ala1441Ser) rs745414245 0.00001
NM_000257.4(MYH7):c.5279C>T (p.Thr1760Met) rs727505294 0.00001
NM_000335.5(SCN5A):c.2875C>T (p.Leu959Phe) rs1329499714 0.00001
NM_000335.5(SCN5A):c.5017T>G (p.Phe1673Val) rs1347295641 0.00001
NM_000335.5(SCN5A):c.5236G>A (p.Val1746Met) rs199473630 0.00001
NM_000384.3(APOB):c.386A>G (p.Tyr129Cys) rs201368319 0.00001
NM_000384.3(APOB):c.6389A>G (p.Asn2130Ser) rs1359479064 0.00001
NM_001032283.3(TMPO):c.565+1165G>C rs191275106 0.00001
NM_001035.3(RYR2):c.5056C>T (p.Leu1686Phe) rs752684338 0.00001
NM_001148.6(ANK2):c.4502C>T (p.Pro1501Leu) rs201071074 0.00001
NM_001267550.2(TTN):c.51625G>A (p.Ala17209Thr) rs1292930837 0.00001
NM_001458.5(FLNC):c.4576C>T (p.Arg1526Cys) rs746275035 0.00001
NM_001927.4(DES):c.28C>T (p.Arg10Cys) rs1196125127 0.00001
NM_001927.4(DES):c.541G>A (p.Asp181Asn) rs1297244198 0.00001
NM_001943.5(DSG2):c.1525G>A (p.Asp509Asn) rs753406968 0.00001
NM_002834.5(PTPN11):c.1579C>T (p.Arg527Cys) rs191525506 0.00001
NM_004281.4(BAG3):c.947A>G (p.Gln316Arg) rs1246603543 0.00001
NM_004415.4(DSP):c.2962C>T (p.Pro988Ser) rs774742340 0.00001
NM_005188.4(CBL):c.93C>A (p.Asp31Glu) rs376679438 0.00001
NM_005633.4(SOS1):c.1574T>C (p.Ile525Thr) rs146722878 0.00001
NM_006258.4(PRKG1):c.1663G>A (p.Asp555Asn) rs773713867 0.00001
NM_006939.4(SOS2):c.2161+10A>G rs201629454 0.00001
NM_014000.3(VCL):c.625A>T (p.Met209Leu) rs144683137 0.00001
NM_017636.4(TRPM4):c.1690C>T (p.Leu564Phe) rs201994425 0.00001
NM_170707.4(LMNA):c.1027C>T (p.Arg343Trp) rs749784223 0.00001
NM_170707.4(LMNA):c.1633C>T (p.Arg545Cys) rs267607613 0.00001
NM_170707.4(LMNA):c.187A>C (p.Ile63Leu) rs899373360 0.00001
NM_170707.4(LMNA):c.20G>A (p.Arg7Gln) rs751916168 0.00001
NM_000090.4(COL3A1):c.4066T>G (p.Phe1356Val) rs945183835
NM_000257.4(MYH7):c.745C>G (p.Arg249Gly) rs730880852
NM_000527.5(LDLR):c.2479G>A (p.Val827Ile) rs137853964
NM_001035.3(RYR2):c.10972A>C (p.Thr3658Pro) rs763304030
NM_001035.3(RYR2):c.13412G>C (p.Gly4471Ala) rs1553325274
NM_001035.3(RYR2):c.14782A>C (p.Lys4928Gln) rs2102956810
NM_001035.3(RYR2):c.14786A>T (p.Asp4929Val) rs2102956841
NM_001035.3(RYR2):c.4064T>A (p.Val1355Glu) rs2148438500
NM_001105206.3(LAMA4):c.3742A>G (p.Ile1248Val) rs547323858
NM_001134363.3(RBM20):c.1184A>G (p.Gln395Arg) rs2135044852
NM_001267550.2(TTN):c.100982G>A (p.Arg33661Lys) rs201857158
NM_001267550.2(TTN):c.32371G>C (p.Val10791Leu) rs765062133
NM_001276345.2(TNNT2):c.851+5G>C rs193922620
NM_001378454.1(ALMS1):c.8524C>G (p.His2842Asp) rs1553409736
NM_001458.5(FLNC):c.3135C>A (p.His1045Gln) rs988307328
NM_001458.5(FLNC):c.4566G>T (p.Gln1522His) rs559667295
NM_001458.5(FLNC):c.7596T>A (p.Asn2532Lys) rs377522797
NM_001927.4(DES):c.77T>A (p.Leu26His) rs1064796529
NM_002230.4(JUP):c.745A>C (p.Thr249Pro) rs2143652715
NM_002474.3(MYH11):c.4000G>A (p.Val1334Met) rs139377348
NM_002834.5(PTPN11):c.1599+4C>A rs142606486
NM_002834.5(PTPN11):c.473G>C (p.Gly158Ala) rs1555267825
NM_003280.3(TNNC1):c.140T>G (p.Met47Arg) rs1553651744
NM_004281.4(BAG3):c.55C>A (p.Arg19Ser) rs727502896
NM_004415.4(DSP):c.6124C>T (p.Pro2042Ser) rs552996773
NM_005159.5(ACTC1):c.166G>A (p.Val56Ile) rs944740404
NM_005751.5(AKAP9):c.2284A>G (p.Lys762Glu) rs776287498
NM_012123.4(MTO1):c.1260+191G>A rs1241914180
NM_012123.4(MTO1):c.1260+193C>A rs1554149118
NM_024301.5(FKRP):c.128C>G (p.Ser43Cys) rs1555738085
NM_024334.3(TMEM43):c.1156C>T (p.Pro386Ser) rs1430520295
NM_032578.4(MYPN):c.806C>T (p.Pro269Leu) rs1489529278
NM_053025.4(MYLK):c.2483G>T (p.Cys828Phe) rs767423365
NM_053025.4(MYLK):c.3637G>C (p.Val1213Leu) rs368390254
NM_053025.4(MYLK):c.4842T>A (p.Asn1614Lys) rs820463
NM_133379.5(TTN):c.11056T>C (p.Trp3686Arg) rs184027783
NM_133379.5(TTN):c.11899T>C (p.Phe3967Leu) rs182640468
NM_174936.4(PCSK9):c.1099G>C (p.Asp367His) rs141867978
NM_174936.4(PCSK9):c.1436C>T (p.Pro479Leu) rs2100326132
NM_174936.4(PCSK9):c.212C>T (p.Pro71Leu) rs569379713

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