ClinVar Miner

List of variants studied for Fanconi renotubular syndrome

Included ClinVar conditions (10):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 165
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HGVS dbSNP gnomAD frequency
NM_152416.4(NDUFAF6):c.*16T>C rs2678832 0.91103
NM_001482.3(GATM):c.1252T>C (p.Leu418=) rs1145086 0.55793
NM_001482.3(GATM):c.330A>T (p.Gln110His) rs1288775 0.45330
NM_003052.5(SLC34A1):c.774T>C (p.His258=) rs5030873 0.24542
NM_003052.5(SLC34A1):c.389-20C>T rs3812036 0.19698
NM_003052.5(SLC34A1):c.389-5C>T rs189794265 0.01364
NM_175914.5(HNF4A):c.669A>G (p.Leu223=) rs139591750 0.00425
NM_175914.5(HNF4A):c.1137C>T (p.Asn379=) rs61737145 0.00384
NM_003052.5(SLC34A1):c.398C>T (p.Ala133Val) rs148976897 0.00298
NM_152416.4(NDUFAF6):c.838G>A (p.Val280Ile) rs61743028 0.00274
NM_175914.5(HNF4A):c.744C>T (p.Asp248=) rs6031592 0.00257
NM_152416.4(NDUFAF6):c.83G>C (p.Gly28Ala) rs201223057 0.00210
NM_152416.4(NDUFAF6):c.663A>G (p.Pro221=) rs193102273 0.00182
NM_001966.4(EHHADH):c.302G>A (p.Gly101Glu) rs142339349 0.00147
NM_003052.5(SLC34A1):c.260-4C>A rs200580283 0.00109
NM_175914.5(HNF4A):c.1032T>A (p.Ile344=) rs145880201 0.00062
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_003052.5(SLC34A1):c.621G>A (p.Ala207=) rs137909349 0.00050
NM_175914.5(HNF4A):c.999C>T (p.Ile333=) rs150247632 0.00045
NM_175914.5(HNF4A):c.921C>T (p.Asp307=) rs151168174 0.00039
NM_001966.4(EHHADH):c.1093T>G (p.Leu365Val) rs140461295 0.00036
NM_001482.3(GATM):c.484+19C>T rs374556262 0.00026
NM_175914.5(HNF4A):c.576C>T (p.Asp192=) rs759574096 0.00019
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.1559T>C (p.Leu520Pro) rs201728701 0.00013
NM_003052.5(SLC34A1):c.741C>A (p.Ile247=) rs374121143 0.00013
NM_001482.3(GATM):c.801A>C (p.Ala267=) rs371507418 0.00012
NM_003052.5(SLC34A1):c.1719A>G (p.Leu573=) rs148575220 0.00012
NM_001482.3(GATM):c.-1G>A rs778453861 0.00010
NM_003052.5(SLC34A1):c.1485C>A (p.Arg495=) rs768939354 0.00010
NM_003052.5(SLC34A1):c.510C>T (p.Ile170=) rs552176812 0.00009
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_175914.5(HNF4A):c.427-20C>T rs184217112 0.00008
NM_003052.5(SLC34A1):c.1912C>T (p.Arg638Cys) rs387907503 0.00006
NM_003052.5(SLC34A1):c.420C>T (p.Asn140=) rs200188041 0.00006
NM_175914.5(HNF4A):c.340C>T (p.Arg114Trp) rs137853336 0.00006
NM_175914.5(HNF4A):c.361A>G (p.Ser121Gly) rs193922472 0.00006
NM_003052.5(SLC34A1):c.1443C>T (p.Asn481=) rs137867155 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_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.979-19G>T rs575171738 0.00004
NM_001966.4(EHHADH):c.117del (p.Ala39_Val40insTer) rs771955031 0.00004
NM_003052.5(SLC34A1):c.1698C>T (p.Pro566=) rs377213972 0.00004
NM_003052.5(SLC34A1):c.72G>T (p.Met24Ile) rs146812061 0.00004
NM_003052.5(SLC34A1):c.73C>T (p.Arg25Ter) rs200893951 0.00004
NM_152416.4(NDUFAF6):c.298-768T>C rs575462405 0.00004
NM_175914.5(HNF4A):c.1026C>T (p.Ala342=) rs751892618 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.468G>A (p.Ala156=) rs758124162 0.00004
NM_001482.3(GATM):c.279C>G (p.Ile93Met) rs192378417 0.00003
NM_003052.5(SLC34A1):c.294C>T (p.Gly98=) rs767269039 0.00003
NM_175914.5(HNF4A):c.1064-18G>A rs773235761 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.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_175914.5(HNF4A):c.1267C>T (p.Pro423Ser) rs1063239 0.00002
NM_001482.3(GATM):c.104C>A (p.Thr35Asn) rs1331986925 0.00001
NM_001482.3(GATM):c.1231G>A (p.Asp411Asn) rs768171759 0.00001
NM_001482.3(GATM):c.1257G>A (p.Gln419=) rs774881489 0.00001
NM_001482.3(GATM):c.138C>T (p.Ser46=) rs1012951622 0.00001
NM_001482.3(GATM):c.294C>T (p.Asn98=) rs1271594468 0.00001
NM_001482.3(GATM):c.48G>T (p.Ala16=) rs587780951 0.00001
NM_001482.3(GATM):c.505C>T (p.Arg169Ter) rs397514708 0.00001
NM_001482.3(GATM):c.540C>T (p.Ile180=) rs758473036 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_001482.3(GATM):c.9G>A (p.Arg3=) rs1471775361 0.00001
NM_001966.4(EHHADH):c.673C>G (p.Pro225Ala) rs762656795 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.1069G>A (p.Gly357Arg) rs770557903 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.745C>T (p.Arg249Ter) rs1426432774 0.00001
NM_003052.5(SLC34A1):c.94G>A (p.Val32Met) rs778803636 0.00001
NM_175914.5(HNF4A):c.-79C>T rs373143621 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.322G>A (p.Val108Ile) rs377476335 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
GRCh37/hg19 5q35.3(chr5:176812675-176813587)
NM_000336.3(SCNN1B):c.1513C>T (p.Arg505Cys)
NM_001482.3(GATM):c.1006A>G (p.Thr336Ala) rs1889422994
NM_001482.3(GATM):c.1007C>T (p.Thr336Ile) rs1481334244
NM_001482.3(GATM):c.1022C>T (p.Pro341Leu) rs1889422661
NM_001482.3(GATM):c.1042+4T>C rs1191624574
NM_001482.3(GATM):c.1159+19A>G rs187979088
NM_001482.3(GATM):c.139C>G (p.Arg47Gly)
NM_001482.3(GATM):c.259T>C (p.Cys87Arg) rs2140657166
NM_001482.3(GATM):c.576G>A (p.Glu192=) rs759135975
NM_001482.3(GATM):c.684C>T (p.Pro228=) rs1251849022
NM_001482.3(GATM):c.752C>T (p.Pro251Leu) rs1424827158
NM_001482.3(GATM):c.814-17C>G rs368314780
NM_001482.3(GATM):c.930C>T (p.Ile310=) rs2140641456
NM_001482.3(GATM):c.941G>A (p.Gly314Asp)
NM_001482.3(GATM):c.958C>T (p.Pro320Ser) rs1889443535
NM_001482.3(GATM):c.965G>C (p.Arg322Pro) rs1325460408
NM_001482.3(GATM):c.979-18dup rs202176047
NM_001966.4(EHHADH):c.1189dup (p.Ser397fs)
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_001966.4(EHHADH):c.7G>A (p.Glu3Lys) rs398124646
NM_003052.5(SLC34A1):c.1038G>T (p.Pro346=) rs73336286
NM_003052.5(SLC34A1):c.1209C>T (p.Tyr403=) rs1581648732
NM_003052.5(SLC34A1):c.1227C>A (p.Gly409=) rs145542852
NM_003052.5(SLC34A1):c.1243G>A (p.Val415Met) rs765774780
NM_003052.5(SLC34A1):c.272_292del (p.Val91_Ala97del) rs876661296
NM_003052.5(SLC34A1):c.409_411del (p.Phe137del) rs758233945
NM_003052.5(SLC34A1):c.458G>T (p.Gly153Val) rs769409705
NM_003052.5(SLC34A1):c.460_480dup (p.Ile154_Val160dup) rs1554095263
NM_003052.5(SLC34A1):c.504dup (p.Ile169fs)
NM_003052.5(SLC34A1):c.580G>A (p.Gly194Ser) rs370983881
NM_003052.5(SLC34A1):c.690dup (p.Val231fs)
NM_003052.5(SLC34A1):c.909G>C (p.Gln303His) rs768061577
NM_152416.4(NDUFAF6):c.420+15dup rs34960210
NM_152416.4(NDUFAF6):c.421-13_421-12del rs79118993
NM_175914.5(HNF4A):c.*145T>A rs200905283
NM_175914.5(HNF4A):c.1118A>G (p.Gln373Arg)
NM_175914.5(HNF4A):c.187C>T (p.Arg63Trp) rs587777732
NM_175914.5(HNF4A):c.2T>C (p.Met1Thr) rs1229650809
NM_175914.5(HNF4A):c.427-1G>A rs1568731279
NM_175914.5(HNF4A):c.427A>G (p.Ile143Val) rs368759794
NM_175914.5(HNF4A):c.50-4560G>A rs1254732171
NM_175914.5(HNF4A):c.589C>A (p.Leu197Met) rs1775879070
NM_175914.5(HNF4A):c.607G>A (p.Gly203Ser) rs2146437968
NM_175914.5(HNF4A):c.691C>T (p.Arg231Trp) rs376013528
NM_175914.5(HNF4A):c.7A>C (p.Ser3Arg)
NM_175914.5(HNF4A):c.912C>A (p.Arg304=) rs760811566
NM_175914.5(HNF4A):c.944TGC[4] (p.Leu319del) rs776489992
NM_175914.5(HNF4A):c.944TGC[6] (p.Leu319dup) rs776489992

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