ClinVar Miner

List of variants reported as uncertain significance for autosomal recessive disease by Johns Hopkins Genomics, Johns Hopkins University

Included ClinVar conditions (1198):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 120
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HGVS dbSNP gnomAD frequency
NM_000492.4(CFTR):c.53+324A>G rs78171410 0.00590
NM_000492.4(CFTR):c.53+8298C>G rs35616800 0.00361
NM_000243.3(MEFV):c.1459G>C (p.Val487Leu) rs104895100 0.00207
NM_000492.4(CFTR):c.3718-3630G>T rs142677818 0.00117
NM_000492.4(CFTR):c.4333G>A (p.Asp1445Asn) rs148783445 0.00074
NM_000492.4(CFTR):c.3717+5793G>T rs567468206 0.00061
NM_000492.4(CFTR):c.*2G>A rs150914702 0.00056
NM_000492.4(CFTR):c.601G>A (p.Val201Met) rs138338446 0.00046
NM_000492.4(CFTR):c.3873+2194A>G rs575989053 0.00041
NM_000492.4(CFTR):c.2620-583C>T rs781023677 0.00038
NM_001161403.3(LIMS2):c.752A>G (p.Gln251Arg) rs146422285 0.00031
NM_024753.5(TTC21B):c.2942G>A (p.Arg981His) rs142022626 0.00028
NM_000492.4(CFTR):c.846A>T (p.Glu282Asp) rs142864834 0.00025
NM_000492.4(CFTR):c.221G>A (p.Arg74Gln) rs142540482 0.00022
NM_017433.5(MYO3A):c.4681C>T (p.Arg1561Ter) rs138593211 0.00020
NM_000492.4(CFTR):c.3041A>G (p.Tyr1014Cys) rs149279509 0.00019
NM_000492.4(CFTR):c.418C>T (p.Pro140Ser) rs145900055 0.00019
NM_000492.4(CFTR):c.1046C>T (p.Ala349Val) rs121909021 0.00015
NM_000492.4(CFTR):c.1270G>A (p.Gly424Ser) rs371107552 0.00012
NM_000492.4(CFTR):c.92G>T (p.Arg31Leu) rs149353983 0.00010
NM_000492.4(CFTR):c.137C>T (p.Ala46Val) rs151020603 0.00009
NM_000492.4(CFTR):c.1584+4119C>T rs983323581 0.00009
NM_000492.4(CFTR):c.2657+2_2657+3insA rs397508414 0.00009
NM_001283009.2(RTEL1):c.2935C>T (p.Arg979Trp) rs144034326 0.00009
NM_000492.4(CFTR):c.1584+3292A>G rs147176173 0.00006
NM_000492.4(CFTR):c.2856G>C (p.Met952Ile) rs151048781 0.00006
NM_000492.4(CFTR):c.861C>G (p.Asn287Lys) rs112162204 0.00006
NM_000492.4(CFTR):c.1210G>C (p.Gly404Arg) rs200899224 0.00004
NM_000492.4(CFTR):c.1585-2061G>C rs187146610 0.00004
NM_000492.4(CFTR):c.1745C>T (p.Thr582Ile) rs397508293 0.00004
NM_000492.4(CFTR):c.638G>A (p.Gly213Glu) rs775701644 0.00004
NM_001378454.1(ALMS1):c.12037G>A (p.Gly4013Ser) rs541576664 0.00004
NM_001378454.1(ALMS1):c.1886G>A (p.Gly629Asp) rs531859344 0.00004
NM_000492.4(CFTR):c.1125A>C (p.Leu375Phe) rs73215912 0.00003
NM_000492.4(CFTR):c.2392C>T (p.Pro798Ser) rs138069616 0.00003
NM_000492.4(CFTR):c.697C>G (p.Leu233Val) rs775713428 0.00003
NM_000492.4(CFTR):c.535C>A (p.Gln179Lys) rs367850319 0.00002
NM_000492.4(CFTR):c.76A>G (p.Lys26Glu) rs759726535 0.00002
NM_000287.4(PEX6):c.2356C>T (p.Arg786Trp) rs267608239 0.00001
NM_000492.4(CFTR):c.1137A>C (p.Glu379Asp) rs774308232 0.00001
NM_000492.4(CFTR):c.1499G>A (p.Gly500Asp) rs774945680 0.00001
NM_000492.4(CFTR):c.2428A>G (p.Arg810Gly) rs377447726 0.00001
NM_000492.4(CFTR):c.266A>G (p.Tyr89Cys) rs397508418 0.00001
NM_000492.4(CFTR):c.2679G>T (p.Gly893=) rs397508419 0.00001
NM_000492.4(CFTR):c.273+4A>G rs387906374 0.00001
NM_000492.4(CFTR):c.2846A>T (p.His949Leu) rs397508444 0.00001
NM_000492.4(CFTR):c.3190A>G (p.Thr1064Ala) rs1792387784 0.00001
NM_000492.4(CFTR):c.3925C>G (p.Gln1309Glu) rs193922732 0.00001
NM_000492.4(CFTR):c.4037T>A (p.Leu1346Gln) rs1313341594 0.00001
NM_000492.4(CFTR):c.40A>G (p.Lys14Glu) rs397508673 0.00001
NM_000492.4(CFTR):c.4186A>C (p.Thr1396Pro) rs375552160 0.00001
NM_000492.4(CFTR):c.4193T>G (p.Ile1398Ser) rs397508692 0.00001
NM_001267550.2(TTN):c.86009T>C (p.Ile28670Thr) rs1703105655 0.00001
NM_015114.3(ANKLE2):c.1606C>T (p.Arg536Cys) rs761627940 0.00001
NM_015910.7(WDPCP):c.968G>A (p.Arg323Gln) rs991936622 0.00001
NM_182961.4(SYNE1):c.17434G>A (p.Ala5812Thr) rs775815795 0.00001
NM_201384.3(PLEC):c.6325C>T (p.Arg2109Trp) rs782507277 0.00001
NM_000091.5(COL4A3):c.814C>T (p.Pro272Ser)
NM_000492.4(CFTR):c.1117-220_1117-4del rs2115881246
NM_000492.4(CFTR):c.1175T>G (p.Val392Gly) rs397508170
NM_000492.4(CFTR):c.1209+568A>G
NM_000492.4(CFTR):c.1392+1498G>A
NM_000492.4(CFTR):c.1393-2042A>G
NM_000492.4(CFTR):c.1486T>C (p.Trp496Arg) rs1554384382
NM_000492.4(CFTR):c.1490T>G (p.Ile497Ser) rs1799421098
NM_000492.4(CFTR):c.1495C>G (p.Pro499Ala) rs397508219
NM_000492.4(CFTR):c.1584+10206A>G
NM_000492.4(CFTR):c.1584+12309T>C
NM_000492.4(CFTR):c.1584+6457A>C
NM_000492.4(CFTR):c.1585-11006A>G
NM_000492.4(CFTR):c.1585-2211A>T
NM_000492.4(CFTR):c.1585-7020G>A
NM_000492.4(CFTR):c.1679+901C>T
NM_000492.4(CFTR):c.1684G>C (p.Val562Leu) rs1800097
NM_000492.4(CFTR):c.1704G>T (p.Leu568Phe) rs397508275
NM_000492.4(CFTR):c.1842C>A (p.Asp614Glu)
NM_000492.4(CFTR):c.205C>A (p.Leu69Ile) rs372421038
NM_000492.4(CFTR):c.224G>T (p.Arg75Leu) rs1800076
NM_000492.4(CFTR):c.2490+1083C>T
NM_000492.4(CFTR):c.2663C>A (p.Pro888His)
NM_000492.4(CFTR):c.273+8304C>T
NM_000492.4(CFTR):c.2734T>A (p.Ser912Thr) rs1554390984
NM_000492.4(CFTR):c.274-1407T>G
NM_000492.4(CFTR):c.274-8043A>G
NM_000492.4(CFTR):c.2906C>T (p.Ala969Val) rs936934088
NM_000492.4(CFTR):c.2963C>T (p.Pro988Leu) rs1792306616
NM_000492.4(CFTR):c.3249T>A (p.Asn1083Lys) rs1584822326
NM_000492.4(CFTR):c.3256A>G (p.Thr1086Ala) rs373043500
NM_000492.4(CFTR):c.3262A>G (p.Asn1088Asp) rs397508523
NM_000492.4(CFTR):c.3460G>A (p.Asp1154Asn) rs397508568
NM_000492.4(CFTR):c.3468+3566G>A
NM_000492.4(CFTR):c.3468+6041A>G
NM_000492.4(CFTR):c.3485G>A (p.Arg1162Gln) rs1800120
NM_000492.4(CFTR):c.3590A>T (p.His1197Leu) rs765133036
NM_000492.4(CFTR):c.3680T>C (p.Leu1227Ser) rs397508593
NM_000492.4(CFTR):c.3717+3055_3717+3064delinsTGTCTCAGTGGGTGGGAAAGGGTGTCTCAGA
NM_000492.4(CFTR):c.3717+6029A>G
NM_000492.4(CFTR):c.3718-3598C>T rs2116156664
NM_000492.4(CFTR):c.3794G>T (p.Gly1265Val) rs1554395370
NM_000492.4(CFTR):c.3874-3828G>T
NM_000492.4(CFTR):c.3874-3854C>G
NM_000492.4(CFTR):c.4051A>G (p.Lys1351Glu) rs397508666
NM_000492.4(CFTR):c.4103T>C (p.Leu1368Pro)
NM_000492.4(CFTR):c.4243-7del rs878854021
NM_000492.4(CFTR):c.4277C>A (p.Ser1426Tyr) rs762847468
NM_000492.4(CFTR):c.498G>C (p.Lys166Asn) rs2116674891
NM_000492.4(CFTR):c.508C>T (p.Arg170Cys) rs578029902
NM_000492.4(CFTR):c.54-9347T>A
NM_000492.4(CFTR):c.575A>T (p.Asp192Val) rs397508758
NM_000492.4(CFTR):c.598T>G (p.Phe200Val) rs397508766
NM_000492.4(CFTR):c.697C>T (p.Leu233Phe) rs775713428
NM_000492.4(CFTR):c.838G>A (p.Ala280Thr)
NM_000492.4(CFTR):c.870-682_870-350del
NM_006618.5(KDM5B):c.2338A>G (p.Lys780Glu) rs1244407080
NM_014956.5(CEP164):c.4250G>A (p.Arg1417Gln) rs560527787
NM_015910.7(WDPCP):c.1011G>C (p.Lys337Asn) rs1694406253
NM_017875.4(SLC25A38):c.85A>G (p.Lys29Glu)
NM_032856.5(WDR73):c.1132dup (p.Arg378fs) rs747109506
NM_182961.4(SYNE1):c.16984C>T (p.Arg5662Cys) rs145899734
NM_201384.3(PLEC):c.119G>A (p.Arg40Gln)

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