ClinVar Miner

List of variants reported as likely pathogenic by Knight Diagnostic Laboratories, Oregon Health and Sciences University

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ClinVar version:
Total variants: 106
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HGVS dbSNP gnomAD frequency
NM_004004.6(GJB2):c.101T>C (p.Met34Thr) rs35887622 0.00966
UGT1A1*6 rs4148323 0.00891
NM_005105.5(RBM8A):c.67+32G>C rs201779890 0.00518
NM_000243.3(MEFV):c.2084A>G (p.Lys695Arg) rs104895094 0.00506
NM_000250.2(MPO):c.2031-2A>C rs35897051 0.00472
NM_000350.3(ABCA4):c.2588G>C (p.Gly863Ala) rs76157638 0.00445
NM_007194.4(CHEK2):c.470T>C (p.Ile157Thr) rs17879961 0.00434
NM_000170.3(GLDC):c.1705G>A (p.Ala569Thr) rs151268759 0.00419
NM_012452.3(TNFRSF13B):c.310T>C (p.Cys104Arg) rs34557412 0.00403
NM_000298.6(PKLR):c.1456C>T (p.Arg486Trp) rs116100695 0.00270
NM_000018.4(ACADVL):c.1844G>A (p.Arg615Gln) rs148584617 0.00244
NM_014270.5(SLC7A9):c.544G>A (p.Ala182Thr) rs79389353 0.00238
NM_000262.3(NAGA):c.973G>A (p.Glu325Lys) rs121434529 0.00225
NM_002693.3(POLG):c.1760C>T (p.Pro587Leu) rs113994096 0.00160
NM_002693.3(POLG):c.752C>T (p.Thr251Ile) rs11394094 0.00159
NM_001256317.3(TMPRSS3):c.413C>A (p.Ala138Glu) rs147231991 0.00146
NM_000038.6(APC):c.3920T>A (p.Ile1307Lys) rs1801155 0.00116
NM_000094.4(COL7A1):c.8371C>T (p.Arg2791Trp) rs142566193 0.00109
NM_001256317.3(TMPRSS3):c.1273G>A (p.Ala425Thr) rs56264519 0.00105
NM_002693.3(POLG):c.2209G>C (p.Gly737Arg) rs121918054 0.00096
NM_000782.5(CYP24A1):c.1226T>C (p.Leu409Ser) rs6068812 0.00084
NM_145199.3(LIPT1):c.369del (p.Lys123fs) rs552120721 0.00071
NM_206933.4(USH2A):c.10073G>A (p.Cys3358Tyr) rs148660051 0.00056
NM_004004.6(GJB2):c.416G>A (p.Ser139Asn) rs76434661 0.00047
NM_001011658.4(TRAPPC2):c.-97G>A rs746032983 0.00034
NM_000350.3(ABCA4):c.1964T>G (p.Phe655Cys) rs200692438 0.00033
NM_007194.4(CHEK2):c.1427C>T (p.Thr476Met) rs142763740 0.00032
NM_020207.7(ERCC6L2):c.19C>T (p.Gln7Ter) rs778926161 0.00031
NM_000053.4(ATP7B):c.122A>G (p.Asn41Ser) rs201738967 0.00025
NM_000260.4(MYO7A):c.3476G>T (p.Gly1159Val) rs199897298 0.00021
NM_172250.3(MMAA):c.433C>T (p.Arg145Ter) rs104893851 0.00017
NM_016239.4(MYO15A):c.8183G>A (p.Arg2728His) rs184435771 0.00011
NM_005327.7(HADH):c.676T>C (p.Tyr226His) rs146036912 0.00010
NM_003114.5(SPAG1):c.897_901del (p.Lys301fs) rs751845138 0.00009
NM_003560.4(PLA2G6):c.1799G>A (p.Arg600Gln) rs149712244 0.00009
NM_005609.4(PYGM):c.425-26A>G rs764313717 0.00009
NM_007194.4(CHEK2):c.349A>G (p.Arg117Gly) rs28909982 0.00009
NM_000053.4(ATP7B):c.3796G>A (p.Gly1266Arg) rs121907992 0.00006
NM_000140.5(FECH):c.1001C>T (p.Pro334Leu) rs150146721 0.00006
NM_001139.3(ALOX12B):c.1579G>A (p.Val527Met) rs199545653 0.00006
NM_001164508.2(NEB):c.23742+2T>C rs545937015 0.00006
NM_001374504.1(TMPRSS6):c.1534G>A (p.Asp512Asn) rs137853120 0.00006
NM_025114.4(CEP290):c.6645+1G>A rs201218801 0.00006
NM_007194.4(CHEK2):c.433C>T (p.Arg145Trp) rs137853007 0.00005
NM_000285.4(PEPD):c.1342G>A (p.Gly448Arg) rs121917724 0.00004
NM_000527.5(LDLR):c.1444G>A (p.Asp482Asn) rs139624145 0.00004
NM_001048174.2(MUTYH):c.241C>T (p.Arg81Trp) rs765123255 0.00004
NM_003907.3(EIF2B5):c.271A>G (p.Thr91Ala) rs28939717 0.00004
NM_012123.4(MTO1):c.1201C>T (p.Arg401Ter) rs775623164 0.00004
NM_001126108.2(SLC12A3):c.247C>T (p.Arg83Trp) rs201255508 0.00003
NM_024577.4(SH3TC2):c.1972C>T (p.Arg658Cys) rs80338926 0.00003
NM_032119.4(ADGRV1):c.12436C>T (p.Arg4146Ter) rs369793306 0.00003
NM_153700.2(STRC):c.4351C>T (p.Arg1451Ter) rs778909195 0.00003
NM_000124.4(ERCC6):c.466C>T (p.Gln156Ter) rs751838040 0.00002
NM_000152.5(GAA):c.1441T>C (p.Trp481Arg) rs772883420 0.00002
NM_000540.3(RYR1):c.14918C>T (p.Pro4973Leu) rs146876145 0.00002
NM_001351169.2(NT5C2):c.1099C>T (p.Arg367Ter) rs769873284 0.00002
NM_000128.4(F11):c.1724C>T (p.Ser575Leu) rs281875250 0.00001
NM_000130.5(F5):c.5408A>G (p.His1803Arg) rs754104059 0.00001
NM_000213.5(ITGB4):c.2986C>T (p.Gln996Ter) rs772142634 0.00001
NM_000258.3(MYL3):c.427G>A (p.Glu143Lys) rs104893750 0.00001
NM_000260.4(MYO7A):c.2558G>A (p.Arg853His) rs111033437 0.00001
NM_001142800.2(EYS):c.6976C>T (p.Arg2326Ter) rs1060499783 0.00001
NM_001378454.1(ALMS1):c.5142T>G (p.Tyr1714Ter) rs772136379 0.00001
NM_003560.4(PLA2G6):c.986G>A (p.Arg329His) rs587784363 0.00001
NM_021957.4(GYS2):c.1230-1G>A rs766733439 0.00001
NM_025215.6(PUS1):c.717C>A (p.Tyr239Ter) rs779651314 0.00001
NM_000027.4(AGA):c.302C>T (p.Ala101Val) rs121964908
NM_000100.4(CSTB):c.218_219del (p.Leu73fs) rs796943858
NM_000132.4(F8):c.3144G>A (p.Trp1048Ter) rs1060499784
NM_000169.3(GLA):c.667T>C (p.Cys223Arg) rs869312381
NM_000179.3(MSH6):c.3646+2T>C rs1553332776
NM_000262.3(NAGA):c.606C>A (p.Tyr202Ter) rs779423223
NM_000277.1:c.[722delG;c.735G>A]
NM_000341.4(SLC3A1):c.1275_1276dup (p.Glu426fs) rs797044609
NM_000341.4(SLC3A1):c.1750del (p.Arg584fs) rs775827496
NM_000400.4(ERCC2):c.594+2_594+5del rs762309206
NM_000426.4(LAMA2):c.2556del (p.Phe852fs) rs750731624
NM_000751.3(CHRND):c.1374_1375del (p.Lys459fs) rs1060499782
NM_000784.4(CYP27A1):c.847A>T (p.Lys283Ter) rs1057519469
NM_001077365.2(POMT1):c.558G>A (p.Trp186Ter) rs772370177
NM_001164508.2(NEB):c.24477_24480dup (p.Ser8161delinsTyrTer) rs797044606
NM_001197104.2(KMT2A):c.3301C>T (p.Arg1101Ter) rs886041856
NM_001346754.2(PIGW):c.617_620del (p.Val206fs) rs753385776
NM_001854.4(COL11A1):c.3512G>A (p.Gly1171Asp)
NM_002225.5(IVD):c.1183C>T (p.Arg395Ter) rs398123681
NM_004629.2(FANCG):c.1158dup (p.Ser387fs) rs757418016
NM_005262.3(GFER):c.199del (p.Arg67fs) rs863224028
NM_005343.4(HRAS):c.175G>A (p.Ala59Thr) rs727503093
NM_005676.5(RBM10):c.2326C>T (p.Arg776Trp) rs1556782020
NM_006017.3(PROM1):c.622del (p.Thr208fs) rs766246531
NM_006371.5(CRTAP):c.471+2C>G rs137853943
NM_014270.5(SLC7A9):c.749+1G>C rs1060499787
NM_014363.6(SACS):c.8848_8849dup (p.Val2951fs) rs797044608
NM_018129.4(PNPO):c.448_451del (p.Pro150fs) rs796052872
NM_024678.6(NARS2):c.727C>T (p.Arg243Ter) rs952741388
NM_025114.4(CEP290):c.4243G>T (p.Glu1415Ter) rs797044604
NM_025114.4(CEP290):c.6818_6818+1dup rs1060499781
NM_025114.4(CEP290):c.7220_7223del (p.Lys2407fs) rs763762899
NM_032634.4(PIGO):c.2191dup (p.Arg731fs) rs760848629
NM_133259.4(LRPPRC):c.3286del (p.His1096fs) rs797044605
NM_133259.4(LRPPRC):c.469+1G>A rs1060499785
NM_138694.4(PKHD1):c.5023del (p.Ala1675fs) rs797044607
NM_139027.6(ADAMTS13):c.3400+143del rs1060499780
NM_144672.4(OTOA):c.828del (p.Ser277fs) rs751447996
Single allele

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