ClinVar Miner

List of variants in gene INVS reported as uncertain significance for Infantile nephronophthisis

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Gene type:
ClinVar version:
Total variants: 120
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HGVS dbSNP gnomAD frequency
NM_014425.5(INVS):c.*467A>T rs10819755 0.00948
NM_014425.5(INVS):c.2803C>T (p.His935Tyr) rs139768159 0.00232
NM_014425.5(INVS):c.2310C>T (p.His770=) rs116606949 0.00118
NM_014425.5(INVS):c.1945G>A (p.Val649Met) rs115042730 0.00087
NM_014425.5(INVS):c.2454G>A (p.Ala818=) rs115937161 0.00067
NM_014425.5(INVS):c.2386C>G (p.Gln796Glu) rs147731667 0.00058
NM_014425.5(INVS):c.1971C>G (p.Asp657Glu) rs114942117 0.00048
NM_014425.5(INVS):c.2785A>G (p.Ser929Gly) rs116188920 0.00048
NM_014425.5(INVS):c.2056A>G (p.Arg686Gly) rs150001738 0.00034
NM_014425.5(INVS):c.118C>G (p.Leu40Val) rs148219510 0.00032
NM_014425.5(INVS):c.2278T>G (p.Ser760Ala) rs146901872 0.00032
NM_014425.5(INVS):c.2200C>T (p.Arg734Trp) rs370949695 0.00022
NM_014425.5(INVS):c.67G>A (p.Val23Ile) rs145303373 0.00021
NM_014425.5(INVS):c.1264G>C (p.Asp422His) rs145243134 0.00014
NM_014425.5(INVS):c.*469A>T rs886063279 0.00013
NM_014425.5(INVS):c.1787A>G (p.Lys596Arg) rs751587570 0.00012
NM_014425.5(INVS):c.*5C>T rs371839458 0.00011
NM_014425.5(INVS):c.*73T>A rs886063273 0.00011
NM_014425.5(INVS):c.706G>A (p.Val236Met) rs150883233 0.00011
NM_014425.5(INVS):c.2776G>A (p.Ala926Thr) rs374891838 0.00010
NM_014425.5(INVS):c.1661T>C (p.Ile554Thr) rs748753412 0.00009
NM_014425.5(INVS):c.1675G>A (p.Ala559Thr) rs199553226 0.00009
NM_014425.5(INVS):c.284G>A (p.Arg95His) rs372088206 0.00009
NM_014425.5(INVS):c.3099C>T (p.Asn1033=) rs368303175 0.00009
NM_014425.5(INVS):c.2335C>T (p.Arg779Trp) rs370643191 0.00008
NM_014425.5(INVS):c.2740C>T (p.Arg914Cys) rs201904771 0.00008
NM_014425.5(INVS):c.1374C>A (p.Thr458=) rs114912725 0.00007
NM_014425.5(INVS):c.1943A>G (p.Asn648Ser) rs116686341 0.00006
NM_014425.5(INVS):c.2673T>G (p.Ile891Met) rs775260392 0.00006
NM_014425.5(INVS):c.2720G>A (p.Arg907Gln) rs781064013 0.00006
NM_014425.5(INVS):c.2764G>C (p.Val922Leu) rs375031657 0.00006
NM_014425.5(INVS):c.103G>A (p.Val35Ile) rs368173855 0.00005
NM_014425.5(INVS):c.2089A>G (p.Lys697Glu) rs374381370 0.00005
NM_014425.5(INVS):c.2782C>T (p.Arg928Ter) rs376879175 0.00005
NM_014425.5(INVS):c.524T>C (p.Ile175Thr) rs766187142 0.00005
NM_014425.5(INVS):c.1111A>G (p.Ser371Gly) rs200546215 0.00004
NM_014425.5(INVS):c.1117G>A (p.Val373Met) rs759162487 0.00004
NM_014425.5(INVS):c.1336A>C (p.Lys446Gln) rs370549699 0.00004
NM_014425.5(INVS):c.2443C>T (p.Arg815Trp) rs564509196 0.00004
NM_014425.5(INVS):c.286T>C (p.Phe96Leu) rs375188577 0.00004
NM_014425.5(INVS):c.3028G>A (p.Glu1010Lys) rs375774619 0.00004
NM_014425.5(INVS):c.1654G>A (p.Ala552Thr) rs748693441 0.00003
NM_014425.5(INVS):c.1669A>G (p.Ile557Val) rs762519529 0.00003
NM_014425.5(INVS):c.1727G>A (p.Arg576Gln) rs758506682 0.00003
NM_014425.5(INVS):c.2272G>A (p.Glu758Lys) rs767989658 0.00003
NM_014425.5(INVS):c.2819G>A (p.Arg940Gln) rs369751285 0.00003
NM_014425.5(INVS):c.796+4C>T rs371310920 0.00003
NM_014425.5(INVS):c.815A>C (p.His272Pro) rs151080341 0.00003
NM_014425.5(INVS):c.2001C>T (p.Gly667=) rs536554704 0.00002
NM_014425.5(INVS):c.2009T>C (p.Leu670Pro) rs762112247 0.00002
NM_014425.5(INVS):c.2263G>A (p.Glu755Lys) rs774692372 0.00002
NM_014425.5(INVS):c.2285G>A (p.Arg762Gln) rs753540322 0.00002
NM_014425.5(INVS):c.3079C>T (p.Arg1027Cys) rs771248759 0.00002
NM_014425.5(INVS):c.3106T>C (p.Cys1036Arg) rs1444531400 0.00002
NM_014425.5(INVS):c.337G>A (p.Glu113Lys) rs747572974 0.00002
NM_014425.5(INVS):c.*45G>A rs1481874573 0.00001
NM_014425.5(INVS):c.-176C>T rs1241040246 0.00001
NM_014425.5(INVS):c.1177C>G (p.Pro393Ala) rs1441776664 0.00001
NM_014425.5(INVS):c.1436A>G (p.Asn479Ser) rs773285164 0.00001
NM_014425.5(INVS):c.1595T>C (p.Leu532Ser) rs1446860684 0.00001
NM_014425.5(INVS):c.1633G>C (p.Glu545Gln) rs1832999935 0.00001
NM_014425.5(INVS):c.1976G>A (p.Arg659Lys) rs201738845 0.00001
NM_014425.5(INVS):c.2021A>G (p.Gln674Arg) rs750909979 0.00001
NM_014425.5(INVS):c.2108T>C (p.Val703Ala) rs1285423022 0.00001
NM_014425.5(INVS):c.2210A>G (p.Lys737Arg) rs1008214234 0.00001
NM_014425.5(INVS):c.2224G>A (p.Val742Met) rs115598824 0.00001
NM_014425.5(INVS):c.2380C>T (p.Arg794Cys) rs556807161 0.00001
NM_014425.5(INVS):c.2381G>A (p.Arg794His) rs766040970 0.00001
NM_014425.5(INVS):c.2485C>T (p.Arg829Cys) rs780527510 0.00001
NM_014425.5(INVS):c.2539C>T (p.His847Tyr) rs1041470924 0.00001
NM_014425.5(INVS):c.2570C>T (p.Ser857Leu) rs775418651 0.00001
NM_014425.5(INVS):c.2714G>A (p.Arg905Lys) rs753100317 0.00001
NM_014425.5(INVS):c.2888A>T (p.Gln963Leu) rs996350769 0.00001
NM_014425.5(INVS):c.301C>T (p.Leu101Phe) rs757623556 0.00001
NM_014425.5(INVS):c.3149C>T (p.Ser1050Phe) rs969660773 0.00001
NM_014425.5(INVS):c.349C>G (p.Pro117Ala) rs1021818693 0.00001
NM_014425.5(INVS):c.368G>A (p.Arg123Gln) rs757534991 0.00001
NM_014425.5(INVS):c.500T>C (p.Leu167Pro) rs374420212 0.00001
NM_014425.5(INVS):c.501G>A (p.Leu167=) rs767884283 0.00001
NM_014425.5(INVS):c.520A>C (p.Asn174His) rs370730139 0.00001
NM_014425.5(INVS):c.658G>A (p.Glu220Lys) rs759684253 0.00001
NM_014425.5(INVS):c.796+5G>A rs1272619479 0.00001
NM_014425.5(INVS):c.889G>A (p.Ala297Thr) rs116475199 0.00001
NM_014425.5(INVS):c.962A>G (p.Glu321Gly) rs749655348 0.00001
NM_014425.5(INVS):c.*158T>C rs1833944803
NM_014425.5(INVS):c.*323A>T rs1833949389
NM_014425.5(INVS):c.*352A>T rs1481868199
NM_014425.5(INVS):c.*415A>G rs1833951689
NM_014425.5(INVS):c.*98A>G rs886063274
NM_014425.5(INVS):c.-178G>A rs886063263
NM_014425.5(INVS):c.118C>T (p.Leu40Phe) rs148219510
NM_014425.5(INVS):c.1464+1G>A rs375753623
NM_014425.5(INVS):c.1466G>A (p.Gly489Glu) rs1015507237
NM_014425.5(INVS):c.1496A>G (p.Asn499Ser) rs1564182761
NM_014425.5(INVS):c.1544C>T (p.Pro515Leu) rs1173094879
NM_014425.5(INVS):c.158T>C (p.Met53Thr) rs748223529
NM_014425.5(INVS):c.1639G>A (p.Gly547Ser) rs368682890
NM_014425.5(INVS):c.1670T>G (p.Ile557Ser) rs1833001296
NM_014425.5(INVS):c.1790G>A (p.Arg597Gln) rs1291135236
NM_014425.5(INVS):c.1808G>A (p.Arg603Gln) rs372596288
NM_014425.5(INVS):c.1916C>A (p.Ala639Asp) rs886063268
NM_014425.5(INVS):c.1994C>G (p.Ser665Cys) rs533008444
NM_014425.5(INVS):c.2002G>A (p.Gly668Arg) rs764384987
NM_014425.5(INVS):c.239G>A (p.Ser80Asn) rs1231356870
NM_014425.5(INVS):c.2441C>T (p.Ala814Val) rs886063269
NM_014425.5(INVS):c.2489C>T (p.Thr830Ile) rs886063270
NM_014425.5(INVS):c.2520C>T (p.Leu840=) rs1833665397
NM_014425.5(INVS):c.2686G>A (p.Val896Ile) rs114847355
NM_014425.5(INVS):c.273+3G>A rs2118895764
NM_014425.5(INVS):c.2822A>G (p.His941Arg) rs886042226
NM_014425.5(INVS):c.2822A>T (p.His941Leu) rs886042226
NM_014425.5(INVS):c.2874A>G (p.Thr958=) rs886063271
NM_014425.5(INVS):c.2935G>A (p.Val979Ile)
NM_014425.5(INVS):c.3051A>G (p.Thr1017=) rs1381275842
NM_014425.5(INVS):c.3056C>G (p.Ser1019Cys) rs886063272
NM_014425.5(INVS):c.3182dup (p.Asn1061fs) rs760013326
NM_014425.5(INVS):c.336G>A (p.Leu112=) rs1564165829
NM_014425.5(INVS):c.564G>A (p.Trp188Ter) rs1564167474
NM_014425.5(INVS):c.775C>T (p.Leu259=) rs886063264
NM_014425.5(INVS):c.875C>T (p.Pro292Leu) rs1831916010

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