ClinVar Miner

List of variants reported as uncertain significance for autosomal recessive disease by Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago

Included ClinVar conditions (1198):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 215
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HGVS dbSNP gnomAD frequency
NM_000243.3(MEFV):c.442G>C (p.Glu148Gln) rs3743930 0.02112
NM_022168.4(IFIH1):c.1641+1G>C rs35337543 0.00728
NM_002693.3(POLG):c.1550G>T (p.Gly517Val) rs61752783 0.00516
NM_000243.3(MEFV):c.2084A>G (p.Lys695Arg) rs104895094 0.00506
NM_002693.3(POLG):c.803G>C (p.Gly268Ala) rs61752784 0.00364
NM_000302.4(PLOD1):c.1534C>T (p.Arg512Cys) rs138490756 0.00328
NR_003051.4(RMRP):n.129G>C rs74810894 0.00319
NM_006846.4(SPINK5):c.1964G>A (p.Gly655Asp) rs142227576 0.00313
NM_006846.4(SPINK5):c.2243A>G (p.Glu748Gly) rs181639116 0.00297
NM_001367624.2(ZNF469):c.1615A>T (p.Ser539Cys) rs189476639 0.00283
NM_000760.4(CSF3R):c.2041-30C>T rs3918021 0.00270
NM_000243.3(MEFV):c.97G>T (p.Val33Leu) rs11466016 0.00250
NM_020964.3(EPG5):c.2998A>G (p.Met1000Val) rs144334723 0.00245
NM_031471.6(FERMT3):c.736G>A (p.Ala246Thr) rs150869428 0.00235
NM_022089.4(ATP13A2):c.*130C>T rs189334432 0.00217
NM_018063.5(HELLS):c.2182A>G (p.Ile728Val) rs116043383 0.00211
NM_022168.4(IFIH1):c.2362G>A (p.Ala788Thr) rs148369169 0.00207
NM_012448.4(STAT5B):c.551-5T>C rs200299299 0.00188
NM_006892.4(DNMT3B):c.608C>T (p.Pro203Leu) rs147945634 0.00185
NM_007254.4(PNKP):c.416G>A (p.Arg139His) rs34472250 0.00185
NM_001283009.2(RTEL1):c.2444G>T (p.Ser815Ile) rs150461578 0.00176
NM_020964.3(EPG5):c.7495A>G (p.Met2499Val) rs191244915 0.00173
NM_002693.3(POLG):c.1837C>T (p.His613Tyr) rs147407423 0.00166
NM_001199107.2(TBC1D24):c.1327G>A (p.Glu443Lys) rs141399869 0.00163
NM_001378454.1(ALMS1):c.6082T>C (p.Ser2028Pro) rs149096794 0.00163
NM_004415.4(DSP):c.2773C>T (p.Arg925Trp) rs145933612 0.00143
NM_001111.5(ADAR):c.2668+6T>C rs190881240 0.00135
NM_000243.3(MEFV):c.986G>A (p.Arg329His) rs104895112 0.00133
NM_000391.4(TPP1):c.14C>A (p.Ala5Asp) rs138976576 0.00133
NM_006846.4(SPINK5):c.1451G>A (p.Arg484Lys) rs190657753 0.00132
NM_031471.6(FERMT3):c.331C>T (p.Arg111Cys) rs140328152 0.00129
NM_020458.4(TTC7A):c.189C>G (p.Asp63Glu) rs112301354 0.00123
NM_000211.5(ITGB2):c.311C>T (p.Thr104Met) rs138682103 0.00121
NM_170707.4(LMNA):c.1930C>T (p.Arg644Cys) rs142000963 0.00117
NM_022168.4(IFIH1):c.2863C>G (p.Gln955Glu) rs144455277 0.00113
NM_020458.4(TTC7A):c.2484G>C (p.Gln828His) rs151032299 0.00088
NM_020964.3(EPG5):c.214G>A (p.Ala72Thr) rs201067154 0.00088
NM_022168.4(IFIH1):c.478A>G (p.Asn160Asp) rs74162075 0.00079
NM_022168.4(IFIH1):c.1066C>A (p.Pro356Thr) rs150317197 0.00078
NM_020458.4(TTC7A):c.1633G>A (p.Val545Ile) rs6755258 0.00076
NM_022168.4(IFIH1):c.2524G>A (p.Glu842Lys) rs79324540 0.00076
NM_001367624.2(ZNF469):c.8503G>C (p.Glu2835Gln) rs200153921 0.00073
NM_000243.3(MEFV):c.277+6C>T rs7199464 0.00071
NM_001378454.1(ALMS1):c.10892G>A (p.Arg3631His) rs142558799 0.00066
NM_001283009.2(RTEL1):c.2600C>T (p.Pro867Leu) rs139083375 0.00065
NM_002693.3(POLG):c.1402A>G (p.Asn468Asp) rs145843073 0.00063
NM_007259.5(VPS45):c.566A>G (p.Glu189Gly) rs144659538 0.00061
NM_000302.4(PLOD1):c.1927G>A (p.Val643Ile) rs149425237 0.00057
NM_020964.3(EPG5):c.7165T>G (p.Leu2389Val) rs199602966 0.00053
NM_000391.4(TPP1):c.1241A>T (p.Asn414Ile) rs146798796 0.00051
NM_001367624.2(ZNF469):c.8344C>T (p.His2782Tyr) rs553227769 0.00051
NM_022089.4(ATP13A2):c.3405+9C>T rs374766933 0.00051
NM_022089.4(ATP13A2):c.2972G>A (p.Arg991Gln) rs145548316 0.00050
NM_024301.5(FKRP):c.456C>G (p.Ser152Arg) rs199714523 0.00048
NM_000243.3(MEFV):c.1151T>C (p.Leu384Pro) rs139313647 0.00047
NM_002241.5(KCNJ10):c.530A>G (p.Glu177Gly) rs145947380 0.00043
NM_004415.4(DSP):c.2683T>C (p.Tyr895His) rs375891215 0.00043
NM_016938.5(EFEMP2):c.259G>A (p.Val87Ile) rs149525720 0.00037
NM_001013838.3(CARMIL2):c.1308C>G (p.Asp436Glu) rs202220889 0.00036
NM_000243.3(MEFV):c.1260+10C>T rs104895137 0.00035
NM_022089.4(ATP13A2):c.1039+6C>T rs565724504 0.00035
NM_002241.5(KCNJ10):c.1043G>A (p.Arg348His) rs146396982 0.00034
NM_004100.5(EYA4):c.749C>A (p.Thr250Asn) rs143757415 0.00034
NM_004415.4(DSP):c.2288A>G (p.Tyr763Cys) rs113967308 0.00034
NM_024301.5(FKRP):c.898G>A (p.Val300Met) rs563033008 0.00031
NM_006279.5(ST3GAL3):c.1079G>A (p.Arg360Gln) rs553120567 0.00027
NM_006279.5(ST3GAL3):c.362G>A (p.Arg121Gln) rs201287443 0.00027
NM_002693.3(POLG):c.328C>T (p.His110Tyr) rs139599587 0.00026
NM_000391.4(TPP1):c.7C>A (p.Leu3Ile) rs142163063 0.00025
NM_004260.4(RECQL4):c.2953G>A (p.Val985Met) rs200629599 0.00024
NM_006796.3(AFG3L2):c.2167G>A (p.Val723Met) rs139469785 0.00024
NM_000243.3(MEFV):c.1370C>T (p.Ala457Val) rs104895151 0.00020
NM_002241.5(KCNJ10):c.148C>T (p.Leu50Phe) rs773510302 0.00019
NM_000057.4(BLM):c.807C>T (p.Ser269=) rs147850738 0.00018
NM_000302.4(PLOD1):c.376T>G (p.Phe126Val) rs144702307 0.00017
NM_002693.3(POLG):c.2021G>A (p.Gly674Asp) rs200257554 0.00017
NM_000211.5(ITGB2):c.1324C>T (p.Leu442Phe) rs750853525 0.00016
NM_002230.4(JUP):c.1172G>A (p.Ser391Asn) rs199826380 0.00016
NM_000302.4(PLOD1):c.1321C>T (p.Arg441Trp) rs11553676 0.00014
NM_001013838.3(CARMIL2):c.1937G>A (p.Arg646Gln) rs781084120 0.00014
NM_004415.4(DSP):c.1534A>G (p.Ile512Val) rs202025438 0.00014
NM_000760.4(CSF3R):c.2072C>T (p.Pro691Leu) rs183614500 0.00013
NM_004415.4(DSP):c.2134G>A (p.Val712Met) rs397516922 0.00012
NM_000057.4(BLM):c.3991A>G (p.Arg1331Gly) rs150631940 0.00010
NM_001287.6(CLCN7):c.2073+4C>T rs768190489 0.00010
NM_004260.4(RECQL4):c.1132-8C>A rs370660188 0.00010
NM_031471.6(FERMT3):c.558G>A (p.Ser186=) rs747094642 0.00010
NM_000231.3(SGCG):c.17A>G (p.Tyr6Cys) rs148041867 0.00009
NM_001814.6(CTSC):c.1201G>A (p.Glu401Lys) rs200627023 0.00009
NM_001143992.2(WRAP53):c.956-6del rs773916846 0.00008
NM_004415.4(DSP):c.107G>C (p.Gly36Ala) rs778506459 0.00008
NM_001143992.2(WRAP53):c.395C>A (p.Thr132Asn) rs201340741 0.00006
NM_003896.4(ST3GAL5):c.247C>T (p.Leu83Phe) rs146955794 0.00006
NM_016938.5(EFEMP2):c.506G>A (p.Arg169His) rs141310608 0.00006
NM_022168.4(IFIH1):c.1243C>A (p.Gln415Lys) rs575678322 0.00006
NM_000391.4(TPP1):c.1425G>A (p.Ser475=) rs779333902 0.00005
NM_001283009.2(RTEL1):c.2308G>A (p.Gly770Arg) rs537754916 0.00005
NM_001283009.2(RTEL1):c.640A>T (p.Asn214Tyr) rs746411863 0.00005
NM_022168.4(IFIH1):c.1787_1797del (p.Lys596fs) rs766039450 0.00005
NM_001378454.1(ALMS1):c.11863T>G (p.Ser3955Ala) rs45528134 0.00004
NM_002230.4(JUP):c.1219G>A (p.Val407Ile) rs370913228 0.00004
NM_002693.3(POLG):c.331G>C (p.Gly111Arg) rs760170099 0.00004
NM_004100.5(EYA4):c.263C>G (p.Pro88Arg) rs727503050 0.00004
NM_006118.4(HAX1):c.221G>A (p.Arg74His) rs151225652 0.00004
NM_022089.4(ATP13A2):c.1542+3G>A rs747456787 0.00004
NM_022089.4(ATP13A2):c.2640C>T (p.Ala880=) rs567287489 0.00004
NM_022089.4(ATP13A2):c.2746G>A (p.Val916Met) rs768674400 0.00004
NM_000760.4(CSF3R):c.103A>G (p.Ile35Val) rs755370892 0.00003
NM_002230.4(JUP):c.1729C>T (p.Arg577Cys) rs782354654 0.00003
NM_004415.4(DSP):c.4492A>G (p.Lys1498Glu) rs794728122 0.00003
NM_012448.4(STAT5B):c.2353G>A (p.Ala785Thr) rs760771231 0.00003
NM_012448.4(STAT5B):c.550+7C>T rs771507023 0.00003
NM_001111.5(ADAR):c.2360C>T (p.Ala787Val) rs367868255 0.00002
NM_001378454.1(ALMS1):c.902T>C (p.Ile301Thr) rs374259576 0.00002
NM_004415.4(DSP):c.6397G>A (p.Gly2133Ser) rs372393122 0.00002
NM_006892.4(DNMT3B):c.1139G>A (p.Arg380Gln) rs148132847 0.00002
NM_016038.4(SBDS):c.173T>C (p.Val58Ala) rs747222022 0.00002
NM_016373.4(WWOX):c.517-108243C>T rs551189075 0.00002
NM_020964.3(EPG5):c.4367A>G (p.Tyr1456Cys) rs761064074 0.00002
NM_022168.4(IFIH1):c.1701G>A (p.Met567Ile) rs765060493 0.00002
NM_022168.4(IFIH1):c.2920C>T (p.His974Tyr) rs748198655 0.00002
NM_031471.6(FERMT3):c.731G>A (p.Gly244Glu) rs776202905 0.00002
NM_138387.4(G6PC3):c.201C>T (p.Leu67=) rs375273894 0.00002
NM_000057.4(BLM):c.3267A>G (p.Gln1089=) rs1396484162 0.00001
NM_000243.3(MEFV):c.1131C>T (p.Arg377=) rs149941578 0.00001
NM_000243.3(MEFV):c.1894G>A (p.Gly632Ser) rs104895128 0.00001
NM_000243.3(MEFV):c.688G>A (p.Glu230Lys) rs104895080 0.00001
NM_000337.6(SGCD):c.761C>A (p.Thr254Lys) rs372607729 0.00001
NM_001199107.2(TBC1D24):c.734T>C (p.Leu245Pro) rs370477379 0.00001
NM_001367624.2(ZNF469):c.1799C>T (p.Thr600Met) rs749374208 0.00001
NM_001367624.2(ZNF469):c.5114C>T (p.Thr1705Ile) rs768667107 0.00001
NM_002485.5(NBN):c.390A>G (p.Gln130=) rs146150499 0.00001
NM_002693.3(POLG):c.3323A>T (p.Tyr1108Phe) rs765949668 0.00001
NM_002693.3(POLG):c.862C>T (p.Arg288Cys) rs564582352 0.00001
NM_004260.4(RECQL4):c.2032G>A (p.Val678Met) rs780282337 0.00001
NM_004415.4(DSP):c.2689G>C (p.Ala897Pro) rs1008407158 0.00001
NM_006118.4(HAX1):c.46C>T (p.Pro16Ser) rs763746492 0.00001
NM_006846.4(SPINK5):c.1282A>G (p.Lys428Glu) rs1428055248 0.00001
NM_006892.4(DNMT3B):c.1490+8C>G rs746731138 0.00001
NM_007259.5(VPS45):c.1535A>G (p.Tyr512Cys) rs782797599 0.00001
NM_014425.5(INVS):c.2380C>T (p.Arg794Cys) rs556807161 0.00001
NM_016038.4(SBDS):c.523C>T (p.Arg175Trp) rs774976459 0.00001
NM_016938.5(EFEMP2):c.928G>A (p.Val310Met) rs544423133 0.00001
NM_020458.4(TTC7A):c.142A>G (p.Arg48Gly) rs557981380 0.00001
NM_020458.4(TTC7A):c.895T>A (p.Cys299Ser) rs1198449310 0.00001
NM_020964.3(EPG5):c.25C>A (p.Arg9Ser) rs368321414 0.00001
NM_020964.3(EPG5):c.3496C>G (p.Leu1166Val) rs772777352 0.00001
NM_020964.3(EPG5):c.713G>T (p.Arg238Leu) rs370270531 0.00001
NM_022168.4(IFIH1):c.2733T>C (p.Ser911=) rs767453829 0.00001
NM_152617.4(RNF168):c.237A>G (p.Ile79Met) rs148808853 0.00001
NM_206933.4(USH2A):c.4733G>A (p.Arg1578His) rs552928943 0.00001
NM_000057.4(BLM):c.1490A>C (p.Gln497Pro) rs368547042
NM_000162.5(GCK):c.232G>T (p.Asp78Tyr)
NM_000243.3(MEFV):c.1318C>G (p.Gln440Glu) rs11466026
NM_000243.3(MEFV):c.2024G>A (p.Ser675Asn) rs104895087
NM_000243.3(MEFV):c.357G>C (p.Lys119Asn) rs1000657059
NM_000243.3(MEFV):c.941_942delinsAT (p.Arg314His) rs1085307824
NM_000302.4(PLOD1):c.2161G>T (p.Ala721Ser) rs781689639
NM_000302.4(PLOD1):c.218G>T (p.Gly73Val) rs1034357016
NM_000302.4(PLOD1):c.534C>A (p.Ser178Arg) rs113384442
NM_000302.4(PLOD1):c.652G>A (p.Val218Met) rs372534520
NM_000391.4(TPP1):c.1243G>A (p.Val415Met) rs2134591998
NM_000760.4(CSF3R):c.1072-10T>C rs1557592278
NM_001013838.3(CARMIL2):c.1546G>A (p.Val516Met)
NM_001079802.2(FKTN):c.506A>G (p.His169Arg)
NM_001136219.3(FCGR2A):c.497C>T (p.Ser166Phe) rs1675655979
NM_001136219.3(FCGR2A):c.780+1G>A rs409763
NM_001142279.2(RNASEH2B):c.767G>A (p.Gly256Asp) rs1428846232
NM_001143992.2(WRAP53):c.1557_1559del (p.Cys519_Gly520delinsTrp) rs2074302817
NM_001143992.2(WRAP53):c.1564dup (p.Ala522fs) rs755116516
NM_001143992.2(WRAP53):c.550A>C (p.Ile184Leu) rs776832907
NM_001283009.2(RTEL1):c.263C>T (p.Ser88Phe) rs758172246
NM_001283009.2(RTEL1):c.3343+8G>A rs768036242
NM_001283009.2(RTEL1):c.732G>A (p.Gly244=) rs919917378
NM_001367624.2(ZNF469):c.10744G>C (p.Ala3582Pro)
NM_001367624.2(ZNF469):c.11016G>T (p.Lys3672Asn) rs967698954
NM_001367624.2(ZNF469):c.3611A>G (p.Gln1204Arg) rs1597208940
NM_001378454.1(ALMS1):c.10421G>A (p.Arg3474His)
NM_001378454.1(ALMS1):c.5453G>T (p.Arg1818Leu) rs200925575
NM_001378454.1(ALMS1):c.8242G>C (p.Gly2748Arg)
NM_002485.5(NBN):c.260T>C (p.Phe87Ser) rs786203573
NM_002693.3(POLG):c.2466C>G (p.Pro822=) rs1235161601
NM_002693.3(POLG):c.3482+6C>T rs55779802
NM_003673.4(TCAP):c.469T>A (p.Ser157Thr)
NM_004260.4(RECQL4):c.2573C>T (p.Thr858Ile)
NM_004415.4(DSP):c.2932A>G (p.Ile978Val) rs780823789
NM_005219.5(DIAPH1):c.1821TCC[4] (p.Pro614_Pro620del) rs3075570
NM_005419.4(STAT2):c.34A>G (p.Ser12Gly) rs1565660719
NM_006846.4(SPINK5):c.2494ACAGGAGAAAGGAGCAAT[1] (p.832TGERSN[1]) rs554634510
NM_006846.4(SPINK5):c.3158G>A (p.Gly1053Glu)
NM_006846.4(SPINK5):c.795-11A>G rs1561685366
NM_006892.4(DNMT3B):c.1543G>A (p.Glu515Lys)
NM_007254.4(PNKP):c.1360C>A (p.Leu454Met) rs200611702
NM_012448.4(STAT5B):c.863A>T (p.Gln288Leu)
NM_014797.3(ZBTB24):c.1583G>A (p.Ser528Asn) rs768489629
NM_014797.3(ZBTB24):c.1786A>G (p.Thr596Ala)
NM_014797.3(ZBTB24):c.745A>C (p.Ser249Arg) rs1776405737
NM_016938.5(EFEMP2):c.1311T>G (p.Phe437Leu) rs1591064625
NM_018389.5(SLC35C1):c.402C>T (p.Cys134=) rs955606062
NM_020661.4(AICDA):c.281T>C (p.Val94Ala) rs2136431874
NM_020964.3(EPG5):c.1258A>G (p.Lys420Glu) rs2143723704
NM_020964.3(EPG5):c.2981C>T (p.Ser994Phe) rs2050179430
NM_020964.3(EPG5):c.6166C>T (p.Arg2056Trp) rs116076204
NM_022168.4(IFIH1):c.1992G>T (p.Lys664Asn) rs2105197453
NM_022168.4(IFIH1):c.457G>T (p.Ala153Ser) rs781431529
NM_024301.5(FKRP):c.10A>G (p.Thr4Ala)
NM_024301.5(FKRP):c.934C>G (p.Arg312Gly)
NM_031471.6(FERMT3):c.514+4A>G rs1591027554
NM_138387.4(G6PC3):c.677+7C>T rs1045392209
NM_138387.4(G6PC3):c.920G>A (p.Ser307Asn)
NM_148919.4(PSMB8):c.815G>A (p.Arg272Gln) rs368551668
NM_152617.4(RNF168):c.1591_1594dup (p.Asn532delinsSerTer) rs751867784
NM_170707.4(LMNA):c.1198G>A (p.Gly400Ser)
NM_182961.4(SYNE1):c.-224+1G>A
NR_003051.4(RMRP):n.92A>G rs752723025

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