ClinVar Miner

List of variants reported as uncertain significance for inherited Fanconi renotubular syndrome

Included ClinVar conditions (10):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 249
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_003052.5(SLC34A1):c.1172C>T (p.Thr391Met) rs143201338 0.00066
NM_003052.5(SLC34A1):c.782G>A (p.Arg261His) rs144306414 0.00066
NM_175914.5(HNF4A):c.1321A>G (p.Ile441Val) rs147638455 0.00061
NM_003052.5(SLC34A1):c.626A>C (p.Asp209Ala) rs201109695 0.00051
NM_001966.4(EHHADH):c.1093T>G (p.Leu365Val) rs140461295 0.00036
NM_003052.5(SLC34A1):c.1416+5G>A rs202081023 0.00036
NM_003052.5(SLC34A1):c.1700G>A (p.Gly567Glu) rs139804628 0.00025
NM_001482.3(GATM):c.701A>G (p.Asp234Gly) rs146057680 0.00022
NM_003052.5(SLC34A1):c.1826C>T (p.Pro609Leu) rs147711480 0.00022
NM_175914.5(HNF4A):c.724G>A (p.Val242Met) rs139779712 0.00019
NM_003052.5(SLC34A1):c.1204G>C (p.Gly402Arg) rs376131751 0.00018
NM_001482.3(GATM):c.160G>A (p.Asp54Asn) rs780777061 0.00017
NM_003052.5(SLC34A1):c.1348G>A (p.Gly450Ser) rs34044544 0.00016
NM_003052.5(SLC34A1):c.25G>T (p.Gly9Trp) rs148669433 0.00016
NM_003052.5(SLC34A1):c.1559T>C (p.Leu520Pro) rs201728701 0.00013
NM_003052.5(SLC34A1):c.1449G>A (p.Ser483=) rs561557630 0.00012
NM_001482.3(GATM):c.-1G>A rs778453861 0.00010
NM_003052.5(SLC34A1):c.653C>T (p.Ala218Val) rs141770901 0.00009
NM_175914.5(HNF4A):c.464G>A (p.Arg155Gln) rs142883089 0.00009
NM_003052.5(SLC34A1):c.1690C>T (p.Arg564Trp) rs146096892 0.00008
NM_003052.5(SLC34A1):c.604G>A (p.Val202Met) rs146919762 0.00006
NM_175914.5(HNF4A):c.361A>G (p.Ser121Gly) rs193922472 0.00006
NM_001482.3(GATM):c.61G>A (p.Gly21Arg) rs903485357 0.00005
NM_003052.5(SLC34A1):c.625G>T (p.Asp209Tyr) rs199847351 0.00005
NM_175914.5(HNF4A):c.1199G>A (p.Arg400Gln) rs202073574 0.00005
NM_175914.5(HNF4A):c.233G>A (p.Arg78Gln) rs371557531 0.00005
NM_175914.5(HNF4A):c.83C>T (p.Ala28Val) rs140143857 0.00005
NM_001482.3(GATM):c.1030A>G (p.Ile344Val) rs747608698 0.00004
NM_001482.3(GATM):c.1106G>A (p.Arg369His) rs747557239 0.00004
NM_001482.3(GATM):c.1244G>A (p.Arg415Gln) rs374592247 0.00004
NM_001482.3(GATM):c.338A>G (p.His113Arg) rs910754475 0.00004
NM_001482.3(GATM):c.990C>G (p.Phe330Leu) rs770808654 0.00004
NM_001966.4(EHHADH):c.117del (p.Ala39_Val40insTer) rs771955031 0.00004
NM_003052.5(SLC34A1):c.1912C>T (p.Arg638Cys) rs387907503 0.00004
NM_003052.5(SLC34A1):c.72G>T (p.Met24Ile) rs146812061 0.00004
NM_152416.4(NDUFAF6):c.298-768T>C rs575462405 0.00004
NM_175914.5(HNF4A):c.358T>C (p.Ser120Pro) rs780342162 0.00004
NM_175914.5(HNF4A):c.445G>A (p.Gly149Arg) rs747928745 0.00004
NM_175914.5(HNF4A):c.863G>A (p.Arg288Gln) rs371124358 0.00004
NM_001482.3(GATM):c.279C>G (p.Ile93Met) rs192378417 0.00003
NM_003052.5(SLC34A1):c.1523C>T (p.Thr508Met) rs148272921 0.00003
NM_175914.5(HNF4A):c.1144G>A (p.Val382Ile) rs377151067 0.00003
NM_175914.5(HNF4A):c.1300A>G (p.Ile434Val) rs774111430 0.00003
NM_175914.5(HNF4A):c.53C>T (p.Thr18Met) rs199796094 0.00003
NM_175914.5(HNF4A):c.657C>T (p.Asp219=) rs376586083 0.00003
NM_175914.5(HNF4A):c.791A>G (p.Tyr264Cys) rs748714111 0.00003
NM_001482.3(GATM):c.494G>A (p.Ser165Asn) rs780398292 0.00002
NM_001482.3(GATM):c.813+6C>T rs771050735 0.00002
NM_001482.3(GATM):c.845G>A (p.Arg282His) rs371447931 0.00002
NM_001482.3(GATM):c.859C>T (p.Pro287Ser) rs773358289 0.00002
NM_003052.5(SLC34A1):c.1175-13G>A rs548223568 0.00002
NM_003052.5(SLC34A1):c.1352C>T (p.Thr451Ile) rs369749329 0.00002
NM_003052.5(SLC34A1):c.437C>T (p.Pro146Leu) rs548844573 0.00002
NM_175914.5(HNF4A):c.1267C>T (p.Pro423Ser) rs1063239 0.00002
NM_175914.5(HNF4A):c.841A>G (p.Ser281Gly) rs201777208 0.00002
NM_001482.3(GATM):c.104C>A (p.Thr35Asn) rs1331986925 0.00001
NM_001482.3(GATM):c.1186C>A (p.Arg396Ser) rs1183535332 0.00001
NM_001482.3(GATM):c.1231G>A (p.Asp411Asn) rs768171759 0.00001
NM_001482.3(GATM):c.565C>T (p.Arg189Cys) rs377578020 0.00001
NM_001482.3(GATM):c.603A>C (p.Lys201Asn) rs748600834 0.00001
NM_001482.3(GATM):c.616C>T (p.Arg206Cys) rs769023072 0.00001
NM_001482.3(GATM):c.625A>G (p.Lys209Glu) rs1393968087 0.00001
NM_001482.3(GATM):c.710A>G (p.Lys237Arg) rs764877849 0.00001
NM_001482.3(GATM):c.76C>G (p.Arg26Gly) rs1032267288 0.00001
NM_001482.3(GATM):c.875A>G (p.His292Arg) rs747005297 0.00001
NM_001482.3(GATM):c.88G>A (p.Gly30Arg) rs1245821498 0.00001
NM_001482.3(GATM):c.911T>C (p.Ile304Thr) rs1334969328 0.00001
NM_001966.4(EHHADH):c.734A>G (p.Tyr245Cys) rs1357636145 0.00001
NM_003052.5(SLC34A1):c.1039G>C (p.Asp347His) rs750711955 0.00001
NM_003052.5(SLC34A1):c.1361C>T (p.Thr454Met) rs1489305215 0.00001
NM_003052.5(SLC34A1):c.1418T>C (p.Ile473Thr) rs184668287 0.00001
NM_003052.5(SLC34A1):c.1466A>G (p.Tyr489Cys) rs756685605 0.00001
NM_003052.5(SLC34A1):c.1624G>A (p.Val542Ile) rs758639329 0.00001
NM_003052.5(SLC34A1):c.536T>C (p.Leu179Pro) rs142772770 0.00001
NM_003052.5(SLC34A1):c.645G>A (p.Arg215=) rs753903046 0.00001
NM_003052.5(SLC34A1):c.94G>A (p.Val32Met) rs778803636 0.00001
NM_175914.5(HNF4A):c.106G>A (p.Ala36Thr) rs376906221 0.00001
NM_175914.5(HNF4A):c.1138G>A (p.Val380Ile) rs137853337 0.00001
NM_175914.5(HNF4A):c.1177G>A (p.Gly393Arg) rs757897768 0.00001
NM_175914.5(HNF4A):c.232C>T (p.Arg78Trp) rs780813696 0.00001
NM_175914.5(HNF4A):c.341G>A (p.Arg114Gln) rs149611886 0.00001
NM_175914.5(HNF4A):c.562G>A (p.Glu188Lys) rs771156648 0.00001
NM_175914.5(HNF4A):c.587C>A (p.Ala196Asp) rs1032164393 0.00001
NM_175914.5(HNF4A):c.714G>C (p.Glu238Asp) rs1259110384 0.00001
NM_175914.5(HNF4A):c.76C>A (p.Leu26Ile) rs753285226 0.00001
NM_175914.5(HNF4A):c.844G>A (p.Asp282Asn) rs145902391 0.00001
NM_175914.5(HNF4A):c.862C>T (p.Arg288Trp) rs768263630 0.00001
NM_000336.3(SCNN1B):c.1513C>T (p.Arg505Cys)
NM_001482.3(GATM):c.1000G>A (p.Gly334Arg) rs749007953
NM_001482.3(GATM):c.1009A>G (p.Ile337Val) rs558560751
NM_001482.3(GATM):c.1022C>T (p.Pro341Leu) rs1889422661
NM_001482.3(GATM):c.1042+4T>C rs1191624574
NM_001482.3(GATM):c.1084G>C (p.Val362Leu)
NM_001482.3(GATM):c.1099G>A (p.Glu367Lys)
NM_001482.3(GATM):c.1208G>A (p.Gly403Glu)
NM_001482.3(GATM):c.1220G>A (p.Cys407Tyr)
NM_001482.3(GATM):c.139C>G (p.Arg47Gly)
NM_001482.3(GATM):c.145T>C (p.Ser49Pro) rs796052537
NM_001482.3(GATM):c.161A>G (p.Asp54Gly)
NM_001482.3(GATM):c.166G>A (p.Ala56Thr)
NM_001482.3(GATM):c.167C>A (p.Ala56Asp)
NM_001482.3(GATM):c.172G>C (p.Glu58Gln)
NM_001482.3(GATM):c.223T>A (p.Leu75Ile)
NM_001482.3(GATM):c.232G>C (p.Val78Leu)
NM_001482.3(GATM):c.289-13C>T
NM_001482.3(GATM):c.297A>G (p.Thr99=) rs1445305823
NM_001482.3(GATM):c.361A>C (p.Lys121Gln)
NM_001482.3(GATM):c.371T>C (p.Val124Ala) rs1889503302
NM_001482.3(GATM):c.378A>T (p.Glu126Asp) rs1889503051
NM_001482.3(GATM):c.437C>G (p.Pro146Arg)
NM_001482.3(GATM):c.460A>G (p.Lys154Glu)
NM_001482.3(GATM):c.472T>C (p.Phe158Leu)
NM_001482.3(GATM):c.493A>G (p.Ser165Gly)
NM_001482.3(GATM):c.519A>G (p.Ile173Met) rs796052534
NM_001482.3(GATM):c.660T>G (p.Asp220Glu)
NM_001482.3(GATM):c.692C>A (p.Ser231Tyr)
NM_001482.3(GATM):c.715G>T (p.Ala239Ser)
NM_001482.3(GATM):c.752C>T (p.Pro251Leu) rs1424827158
NM_001482.3(GATM):c.754T>C (p.Cys252Arg)
NM_001482.3(GATM):c.782C>G (p.Ala261Gly)
NM_001482.3(GATM):c.862G>T (p.Asp288Tyr)
NM_001482.3(GATM):c.932T>C (p.Ile311Thr) rs1460902723
NM_001482.3(GATM):c.941G>A (p.Gly314Asp)
NM_001482.3(GATM):c.964C>A (p.Arg322=)
NM_001482.3(GATM):c.965G>A (p.Arg322Gln)
NM_001966.4(EHHADH):c.1015A>T (p.Met339Leu)
NM_001966.4(EHHADH):c.1816_1817insG (p.Thr606fs) rs1553775828
NM_001966.4(EHHADH):c.1984G>A (p.Gly662Arg)
NM_001966.4(EHHADH):c.2011G>T (p.Gly671Trp)
NM_001966.4(EHHADH):c.42C>G (p.Ile14Met)
NM_003052.5(SLC34A1):c.1006+2dup
NM_003052.5(SLC34A1):c.1007-7C>G
NM_003052.5(SLC34A1):c.1022T>C (p.Val341Ala)
NM_003052.5(SLC34A1):c.1028C>T (p.Thr343Ile)
NM_003052.5(SLC34A1):c.1037C>T (p.Pro346Leu)
NM_003052.5(SLC34A1):c.1079T>G (p.Val360Gly)
NM_003052.5(SLC34A1):c.1116G>T (p.Met372Ile)
NM_003052.5(SLC34A1):c.1150G>T (p.Val384Phe)
NM_003052.5(SLC34A1):c.115C>T (p.His39Tyr)
NM_003052.5(SLC34A1):c.117C>G (p.His39Gln)
NM_003052.5(SLC34A1):c.118A>T (p.Arg40Trp)
NM_003052.5(SLC34A1):c.1228G>A (p.Ala410Thr)
NM_003052.5(SLC34A1):c.1238C>A (p.Thr413Asn)
NM_003052.5(SLC34A1):c.1238C>T (p.Thr413Ile)
NM_003052.5(SLC34A1):c.1243G>A (p.Val415Met) rs765774780
NM_003052.5(SLC34A1):c.1243G>T (p.Val415Leu)
NM_003052.5(SLC34A1):c.1271C>T (p.Ser424Leu)
NM_003052.5(SLC34A1):c.1290C>T (p.Ile430=)
NM_003052.5(SLC34A1):c.1310T>C (p.Ile437Thr)
NM_003052.5(SLC34A1):c.1316G>A (p.Arg439Lys)
NM_003052.5(SLC34A1):c.131C>A (p.Thr44Asn)
NM_003052.5(SLC34A1):c.1325C>T (p.Pro442Leu)
NM_003052.5(SLC34A1):c.1337G>A (p.Gly446Asp)
NM_003052.5(SLC34A1):c.1495C>T (p.Arg499Cys)
NM_003052.5(SLC34A1):c.1499T>C (p.Met500Thr)
NM_003052.5(SLC34A1):c.1520G>A (p.Arg507His)
NM_003052.5(SLC34A1):c.1534C>T (p.Arg512Cys)
NM_003052.5(SLC34A1):c.1576C>A (p.Leu526Met)
NM_003052.5(SLC34A1):c.1654C>A (p.Leu552Met)
NM_003052.5(SLC34A1):c.175G>A (p.Glu59Lys)
NM_003052.5(SLC34A1):c.1783C>T (p.Arg595Cys)
NM_003052.5(SLC34A1):c.1784G>A (p.Arg595His)
NM_003052.5(SLC34A1):c.1788_1797del (p.Thr597fs)
NM_003052.5(SLC34A1):c.1831C>T (p.Pro611Ser)
NM_003052.5(SLC34A1):c.1836del (p.Arg613fs)
NM_003052.5(SLC34A1):c.1849G>A (p.Glu617Lys)
NM_003052.5(SLC34A1):c.1885G>T (p.Ala629Ser)
NM_003052.5(SLC34A1):c.209G>A (p.Arg70His)
NM_003052.5(SLC34A1):c.23T>G (p.Leu8Arg)
NM_003052.5(SLC34A1):c.241G>C (p.Glu81Gln)
NM_003052.5(SLC34A1):c.266G>A (p.Arg89Lys)
NM_003052.5(SLC34A1):c.279G>C (p.Lys93Asn)
NM_003052.5(SLC34A1):c.280C>A (p.Leu94Met)
NM_003052.5(SLC34A1):c.284G>T (p.Arg95Leu)
NM_003052.5(SLC34A1):c.293G>A (p.Gly98Asp)
NM_003052.5(SLC34A1):c.409_411del (p.Phe137del) rs758233945
NM_003052.5(SLC34A1):c.40T>G (p.Ser14Ala)
NM_003052.5(SLC34A1):c.415G>T (p.Asp139Tyr)
NM_003052.5(SLC34A1):c.446G>A (p.Gly149Glu)
NM_003052.5(SLC34A1):c.472G>A (p.Val158Met)
NM_003052.5(SLC34A1):c.511G>A (p.Val171Ile)
NM_003052.5(SLC34A1):c.521T>G (p.Val174Gly)
NM_003052.5(SLC34A1):c.533-11T>A
NM_003052.5(SLC34A1):c.537G>A (p.Leu179=)
NM_003052.5(SLC34A1):c.580G>A (p.Gly194Ser) rs370983881
NM_003052.5(SLC34A1):c.583A>G (p.Thr195Ala)
NM_003052.5(SLC34A1):c.58G>T (p.Gly20Trp)
NM_003052.5(SLC34A1):c.592A>G (p.Thr198Ala)
NM_003052.5(SLC34A1):c.601A>G (p.Ile201Val)
NM_003052.5(SLC34A1):c.614T>C (p.Met205Thr)
NM_003052.5(SLC34A1):c.640C>T (p.Arg214Trp)
NM_003052.5(SLC34A1):c.644+14G>T
NM_003052.5(SLC34A1):c.644+15G>A
NM_003052.5(SLC34A1):c.706C>G (p.Pro236Ala) rs1356220927
NM_003052.5(SLC34A1):c.714G>C (p.Glu238Asp)
NM_003052.5(SLC34A1):c.761C>T (p.Ser254Phe)
NM_003052.5(SLC34A1):c.775G>A (p.Gly259Ser)
NM_003052.5(SLC34A1):c.795C>G (p.Asp265Glu)
NM_003052.5(SLC34A1):c.796C>A (p.Leu266Met)
NM_003052.5(SLC34A1):c.80C>T (p.Thr27Met)
NM_003052.5(SLC34A1):c.898A>G (p.Ser300Gly)
NM_003052.5(SLC34A1):c.902T>C (p.Leu301Pro)
NM_003052.5(SLC34A1):c.909G>C (p.Gln303His) rs768061577
NM_003052.5(SLC34A1):c.913T>C (p.Trp305Arg)
NM_003052.5(SLC34A1):c.943A>G (p.Thr315Ala)
NM_003052.5(SLC34A1):c.94G>C (p.Val32Leu)
NM_003052.5(SLC34A1):c.963G>C (p.Glu321Asp)
NM_003052.5(SLC34A1):c.982C>G (p.Leu328Val)
NM_003052.5(SLC34A1):c.998T>C (p.Met333Thr)
NM_175914.5(HNF4A):c.*145T>A rs200905283
NM_175914.5(HNF4A):c.1063+120G>A
NM_175914.5(HNF4A):c.10G>A (p.Val4Met)
NM_175914.5(HNF4A):c.1118A>G (p.Gln373Arg)
NM_175914.5(HNF4A):c.1185G>A (p.Met395Ile)
NM_175914.5(HNF4A):c.1187G>C (p.Cys396Ser) rs193922470
NM_175914.5(HNF4A):c.1196C>T (p.Pro399Leu)
NM_175914.5(HNF4A):c.1208G>A (p.Gly403Glu)
NM_175914.5(HNF4A):c.1208G>T (p.Gly403Val)
NM_175914.5(HNF4A):c.1250G>A (p.Gly417Asp)
NM_175914.5(HNF4A):c.1312C>A (p.Leu438Ile)
NM_175914.5(HNF4A):c.1331C>T (p.Pro444Leu)
NM_175914.5(HNF4A):c.1348G>A (p.Glu450Lys)
NM_175914.5(HNF4A):c.199C>A (p.Arg67=)
NM_175914.5(HNF4A):c.203A>G (p.Lys68Arg)
NM_175914.5(HNF4A):c.212T>G (p.Met71Arg)
NM_175914.5(HNF4A):c.287A>G (p.Lys96Arg)
NM_175914.5(HNF4A):c.28G>C (p.Ala10Pro)
NM_175914.5(HNF4A):c.2T>C (p.Met1Thr) rs1229650809
NM_175914.5(HNF4A):c.427A>G (p.Ile143Val) rs368759794
NM_175914.5(HNF4A):c.461T>G (p.Ile154Ser)
NM_175914.5(HNF4A):c.463C>G (p.Arg155Gly)
NM_175914.5(HNF4A):c.463C>T (p.Arg155Trp)
NM_175914.5(HNF4A):c.50-4560G>A rs1254732171
NM_175914.5(HNF4A):c.534G>T (p.Glu178Asp)
NM_175914.5(HNF4A):c.577G>A (p.Asp193Asn)
NM_175914.5(HNF4A):c.583-19T>A
NM_175914.5(HNF4A):c.607G>A (p.Gly203Ser) rs2146437968
NM_175914.5(HNF4A):c.609C>T (p.Gly203=)
NM_175914.5(HNF4A):c.643A>G (p.Met215Val)
NM_175914.5(HNF4A):c.655G>A (p.Asp219Asn)
NM_175914.5(HNF4A):c.702G>A (p.Pro234=)
NM_175914.5(HNF4A):c.707T>G (p.Leu236Arg)
NM_175914.5(HNF4A):c.710C>T (p.Ala237Val)
NM_175914.5(HNF4A):c.716T>C (p.Met239Thr)
NM_175914.5(HNF4A):c.7A>C (p.Ser3Arg)
NM_175914.5(HNF4A):c.911G>A (p.Arg304His)
NM_175914.5(HNF4A):c.944TGC[4] (p.Leu319del) rs776489992
NM_175914.5(HNF4A):c.991G>A (p.Glu331Lys)
NM_175914.5(HNF4A):c.999C>G (p.Ile333Met)

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