ClinVar Miner

List of variants studied for Infantile nephronophthisis

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 287
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HGVS dbSNP gnomAD frequency
NM_014425.5(INVS):c.2412T>C (p.Ser804=) rs2787374 0.53208
NM_014425.5(INVS):c.1235-5T>C rs2245216 0.30271
NM_014425.5(INVS):c.-110T>G rs7024375 0.17693
NM_014425.5(INVS):c.2402G>A (p.Gly801Glu) rs76868679 0.02854
NM_014425.5(INVS):c.616-19T>C rs78038572 0.01891
NM_014425.5(INVS):c.*467A>T rs10819755 0.00948
NM_014425.5(INVS):c.-155C>T rs62577237 0.00872
NM_014425.5(INVS):c.740A>G (p.Asn247Ser) rs41312220 0.00526
NM_014425.5(INVS):c.725C>T (p.Ser242Leu) rs2491097 0.00445
NM_014425.5(INVS):c.1948G>C (p.Ala650Pro) rs147452898 0.00378
NM_014425.5(INVS):c.2116A>G (p.Arg706Gly) rs116222916 0.00360
NM_014425.5(INVS):c.2803C>T (p.His935Tyr) rs139768159 0.00232
NM_014425.5(INVS):c.-17C>T rs181463817 0.00180
NM_014425.5(INVS):c.3017-5T>G rs201018893 0.00177
NM_014425.5(INVS):c.2193C>T (p.Gly731=) rs148758887 0.00158
NM_014425.5(INVS):c.913G>A (p.Val305Ile) rs116438342 0.00140
NM_014425.5(INVS):c.2310C>T (p.His770=) rs116606949 0.00118
NM_014425.5(INVS):c.*297A>G rs190277417 0.00093
NM_014425.5(INVS):c.1945G>A (p.Val649Met) rs115042730 0.00087
NM_014425.5(INVS):c.1704G>A (p.Gly568=) rs114645869 0.00073
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.2785A>G (p.Ser929Gly) rs116188920 0.00048
NM_014425.5(INVS):c.1971C>G (p.Asp657Glu) rs114942117 0.00046
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 0.00031
NM_014425.5(INVS):c.67G>A (p.Val23Ile) rs145303373 0.00027
NM_014425.5(INVS):c.-129C>A rs533889420 0.00023
NM_014425.5(INVS):c.1785-20T>G rs200028895 0.00019
NM_014425.5(INVS):c.1264G>C (p.Asp422His) rs145243134 0.00014
NM_014425.5(INVS):c.1374C>A (p.Thr458=) rs114912725 0.00013
NM_014425.5(INVS):c.2776G>A (p.Ala926Thr) rs374891838 0.00013
NM_014425.5(INVS):c.1787A>G (p.Lys596Arg) rs751587570 0.00012
NM_014425.5(INVS):c.706G>A (p.Val236Met) rs150883233 0.00012
NM_014425.5(INVS):c.*469A>T rs886063279 0.00011
NM_014425.5(INVS):c.*73T>A rs886063273 0.00011
NM_014425.5(INVS):c.2685C>T (p.Pro895=) rs371932940 0.00011
NM_024753.5(TTC21B):c.626C>T (p.Pro209Leu) rs140511594 0.00011
NM_014425.5(INVS):c.*5C>T rs371839458 0.00010
NM_014425.5(INVS):c.1675G>A (p.Ala559Thr) rs199553226 0.00009
NM_014425.5(INVS):c.2695C>T (p.Arg899Ter) rs200844390 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.1661T>C (p.Ile554Thr) rs748753412 0.00007
NM_014425.5(INVS):c.2200C>T (p.Arg734Trp) rs370949695 0.00007
NM_014425.5(INVS):c.2720G>A (p.Arg907Gln) rs781064013 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.2764G>C (p.Val922Leu) rs375031657 0.00006
NM_014425.5(INVS):c.2819G>A (p.Arg940Gln) rs369751285 0.00006
NM_014425.5(INVS):c.2919C>A (p.Phe973Leu) rs374199927 0.00006
NM_014425.5(INVS):c.103G>A (p.Val35Ile) rs368173855 0.00005
NM_014425.5(INVS):c.1373C>G (p.Thr458Ser) rs745648344 0.00005
NM_014425.5(INVS):c.1453del (p.Gln485fs) rs753348470 0.00005
NM_014425.5(INVS):c.2089A>G (p.Lys697Glu) rs374381370 0.00005
NM_014425.5(INVS):c.307C>T (p.Arg103Cys) rs750863293 0.00005
NM_014425.5(INVS):c.448-11C>T rs112573051 0.00005
NM_014425.5(INVS):c.524T>C (p.Ile175Thr) rs766187142 0.00005
NM_014425.5(INVS):c.1336A>C (p.Lys446Gln) rs370549699 0.00004
NM_014425.5(INVS):c.1465-15T>G rs772436028 0.00004
NM_014425.5(INVS):c.1490G>A (p.Cys497Tyr) rs1296545586 0.00004
NM_014425.5(INVS):c.2201G>A (p.Arg734Gln) rs558958395 0.00004
NM_014425.5(INVS):c.2307G>A (p.Pro769=) rs140706545 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.3047C>T (p.Pro1016Leu) rs957406093 0.00004
NM_014425.5(INVS):c.1111A>G (p.Ser371Gly) rs200546215 0.00003
NM_014425.5(INVS):c.1117G>A (p.Val373Met) rs759162487 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.197C>T (p.Ala66Val) rs772644712 0.00003
NM_014425.5(INVS):c.1994C>G (p.Ser665Cys) rs533008444 0.00003
NM_014425.5(INVS):c.2272G>A (p.Glu758Lys) rs767989658 0.00003
NM_014425.5(INVS):c.3106T>C (p.Cys1036Arg) rs1444531400 0.00003
NM_014425.5(INVS):c.595C>A (p.His199Asn) rs751348020 0.00003
NM_014425.5(INVS):c.796+4C>T rs371310920 0.00003
NM_024753.5(TTC21B):c.2758-2A>G rs766132877 0.00003
NM_014425.5(INVS):c.1638C>T (p.His546=) rs758665047 0.00002
NM_014425.5(INVS):c.1654G>A (p.Ala552Thr) rs748693441 0.00002
NM_014425.5(INVS):c.165C>T (p.Cys55=) rs552421229 0.00002
NM_014425.5(INVS):c.1808G>A (p.Arg603Gln) rs372596288 0.00002
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.2029T>G (p.Ser677Ala) rs758878275 0.00002
NM_014425.5(INVS):c.2068+2T>C rs777556837 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.2429G>A (p.Arg810His) rs772496111 0.00002
NM_014425.5(INVS):c.337G>A (p.Glu113Lys) rs747572974 0.00002
NM_014425.5(INVS):c.815A>C (p.His272Pro) rs151080341 0.00002
NM_014425.5(INVS):c.867A>C (p.Gly289=) rs1227795087 0.00002
NM_014425.5(INVS):c.*323A>T rs1833949389 0.00001
NM_014425.5(INVS):c.*352A>T rs1481868199 0.00001
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.1078+1G>A rs375416014 0.00001
NM_014425.5(INVS):c.1177C>G (p.Pro393Ala) rs1441776664 0.00001
NM_014425.5(INVS):c.1186C>T (p.Arg396Ter) rs773049314 0.00001
NM_014425.5(INVS):c.1219C>T (p.Gln407Ter) rs368746630 0.00001
NM_014425.5(INVS):c.1379T>G (p.Leu460Trp) rs878854980 0.00001
NM_014425.5(INVS):c.1436A>G (p.Asn479Ser) rs773285164 0.00001
NM_014425.5(INVS):c.1484G>A (p.Trp495Ter) rs149055711 0.00001
NM_014425.5(INVS):c.1508A>G (p.Asp503Gly) rs1832737838 0.00001
NM_014425.5(INVS):c.1544C>T (p.Pro515Leu) rs1173094879 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.1671C>T (p.Ile557=) rs770524429 0.00001
NM_014425.5(INVS):c.1726C>T (p.Arg576Ter) rs1179816505 0.00001
NM_014425.5(INVS):c.1789C>T (p.Arg597Ter) rs755288504 0.00001
NM_014425.5(INVS):c.1807C>T (p.Arg603Ter) rs121964994 0.00001
NM_014425.5(INVS):c.1976G>A (p.Arg659Lys) rs201738845 0.00001
NM_014425.5(INVS):c.1990G>A (p.Gly664Arg) rs1397635177 0.00001
NM_014425.5(INVS):c.2021A>G (p.Gln674Arg) rs750909979 0.00001
NM_014425.5(INVS):c.2035G>T (p.Asp679Tyr) rs751056550 0.00001
NM_014425.5(INVS):c.2062C>T (p.Pro688Ser) rs769487492 0.00001
NM_014425.5(INVS):c.2108T>C (p.Val703Ala) rs1285423022 0.00001
NM_014425.5(INVS):c.2194G>A (p.Asp732Asn) rs1351418236 0.00001
NM_014425.5(INVS):c.2224G>A (p.Val742Met) rs115598824 0.00001
NM_014425.5(INVS):c.2260G>A (p.Asp754Asn) rs115401137 0.00001
NM_014425.5(INVS):c.2351C>T (p.Pro784Leu) rs1401794025 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.2394C>G (p.Leu798=) rs751531097 0.00001
NM_014425.5(INVS):c.239G>A (p.Ser80Asn) rs1231356870 0.00001
NM_014425.5(INVS):c.2417C>T (p.Ala806Val) rs201824415 0.00001
NM_014425.5(INVS):c.2485C>T (p.Arg829Cys) rs780527510 0.00001
NM_014425.5(INVS):c.2519T>C (p.Leu840Pro) rs772783995 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.2786+1G>A rs935629850 0.00001
NM_014425.5(INVS):c.2822A>G (p.His941Arg) rs886042226 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.3027C>T (p.His1009=) rs201136636 0.00001
NM_014425.5(INVS):c.3079C>T (p.Arg1027Cys) rs771248759 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.360G>T (p.Leu120Phe) rs1564165860 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.646T>G (p.Trp216Gly) rs1446856893 0.00001
NM_014425.5(INVS):c.658G>A (p.Glu220Lys) rs759684253 0.00001
NM_014425.5(INVS):c.707T>C (p.Val236Ala) rs754369982 0.00001
NM_014425.5(INVS):c.766C>T (p.Arg256Ter) rs1369878554 0.00001
NM_014425.5(INVS):c.889G>A (p.Ala297Thr) rs116475199 0.00001
NM_014425.5(INVS):c.890C>T (p.Ala297Val) rs759327541 0.00001
NM_014425.5(INVS):c.916A>G (p.Lys306Glu) rs878854981 0.00001
NM_014425.5(INVS):c.962A>G (p.Glu321Gly) rs749655348 0.00001
GRCh37/hg19 9q31.1(chr9:103059178-103060312)
NM_014425.5(INVS):c.*158T>C rs1833944803
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.1018A>C (p.Thr340Pro)
NM_014425.5(INVS):c.1044del (p.Ile348fs)
NM_014425.5(INVS):c.107-1G>A rs2490877060
NM_014425.5(INVS):c.1106A>G (p.His369Arg)
NM_014425.5(INVS):c.1130T>C (p.Leu377Pro)
NM_014425.5(INVS):c.118C>T (p.Leu40Phe) rs148219510
NM_014425.5(INVS):c.1207A>T (p.Lys403Ter)
NM_014425.5(INVS):c.1234+3G>A
NM_014425.5(INVS):c.1270C>T (p.His424Tyr)
NM_014425.5(INVS):c.1323A>G (p.Ile441Met)
NM_014425.5(INVS):c.133_134del (p.Asp45fs)
NM_014425.5(INVS):c.1345C>A (p.Pro449Thr)
NM_014425.5(INVS):c.1345C>T (p.Pro449Ser) rs753443905
NM_014425.5(INVS):c.1367del (p.Gly456fs) rs1564177022
NM_014425.5(INVS):c.1404T>A (p.Tyr468Ter)
NM_014425.5(INVS):c.1445del (p.Pro482fs)
NM_014425.5(INVS):c.1465-10del
NM_014425.5(INVS):c.1466G>A (p.Gly489Glu) rs1015507237
NM_014425.5(INVS):c.1478T>C (p.Leu493Ser) rs121964995
NM_014425.5(INVS):c.1496A>G (p.Asn499Ser) rs1564182761
NM_014425.5(INVS):c.1572-1G>A
NM_014425.5(INVS):c.1584T>A (p.Leu528=) rs1832998425
NM_014425.5(INVS):c.158T>C (p.Met53Thr) rs748223529
NM_014425.5(INVS):c.1601dup (p.Gly534_Glu535insTer)
NM_014425.5(INVS):c.1630T>G (p.Leu544Val)
NM_014425.5(INVS):c.1639G>A (p.Gly547Ser) rs368682890
NM_014425.5(INVS):c.1645C>T (p.Leu549=)
NM_014425.5(INVS):c.1655C>T (p.Ala552Val)
NM_014425.5(INVS):c.1670T>G (p.Ile557Ser) rs1833001296
NM_014425.5(INVS):c.1703G>C (p.Gly568Ala)
NM_014425.5(INVS):c.1748T>C (p.Met583Thr)
NM_014425.5(INVS):c.1758A>C (p.Glu586Asp)
NM_014425.5(INVS):c.1760del (p.Gln587fs) rs1833004339
NM_014425.5(INVS):c.1773_1784+2dup
NM_014425.5(INVS):c.1785-14G>A rs2118724157
NM_014425.5(INVS):c.178A>T (p.Arg60Ter)
NM_014425.5(INVS):c.1790G>A (p.Arg597Gln) rs1291135236
NM_014425.5(INVS):c.1903A>G (p.Arg635Gly) rs1283286107
NM_014425.5(INVS):c.1916C>A (p.Ala639Asp) rs886063268
NM_014425.5(INVS):c.1969G>A (p.Asp657Asn)
NM_014425.5(INVS):c.1975A>G (p.Arg659Gly)
NM_014425.5(INVS):c.1994C>T (p.Ser665Phe) rs533008444
NM_014425.5(INVS):c.2002G>A (p.Gly668Arg) rs764384987
NM_014425.5(INVS):c.2160del (p.Ser721fs)
NM_014425.5(INVS):c.2164G>A (p.Val722Ile)
NM_014425.5(INVS):c.2173T>C (p.Ser725Pro) rs1833647632
NM_014425.5(INVS):c.2189C>T (p.Ala730Val) rs763766362
NM_014425.5(INVS):c.2207C>T (p.Ala736Val)
NM_014425.5(INVS):c.2210A>G (p.Lys737Arg) rs1008214234
NM_014425.5(INVS):c.2225dup (p.Lys743fs) rs2490115316
NM_014425.5(INVS):c.2299C>T (p.Leu767Phe) rs867609909
NM_014425.5(INVS):c.232G>A (p.Asp78Asn)
NM_014425.5(INVS):c.2371C>T (p.Gln791Ter) rs750287289
NM_014425.5(INVS):c.2384C>T (p.Thr795Ile)
NM_014425.5(INVS):c.2387_2388del (p.Gln796fs)
NM_014425.5(INVS):c.2407T>A (p.Cys803Ser)
NM_014425.5(INVS):c.240C>A (p.Ser80Arg)
NM_014425.5(INVS):c.241C>T (p.Gln81Ter)
NM_014425.5(INVS):c.2441C>T (p.Ala814Val) rs886063269
NM_014425.5(INVS):c.2447G>T (p.Gly816Val) rs761376698
NM_014425.5(INVS):c.2448_2449delinsT (p.Glu817fs)
NM_014425.5(INVS):c.2449dup (p.Glu817fs) rs752609119
NM_014425.5(INVS):c.2473C>A (p.Pro825Thr)
NM_014425.5(INVS):c.2489C>T (p.Thr830Ile) rs886063270
NM_014425.5(INVS):c.2497A>C (p.Asn833His)
NM_014425.5(INVS):c.2501_2502del (p.Lys834fs) rs777723411
NM_014425.5(INVS):c.2520C>T (p.Leu840=) rs1833665397
NM_014425.5(INVS):c.2550G>C (p.Gln850His)
NM_014425.5(INVS):c.2582G>C (p.Arg861Thr) rs760537423
NM_014425.5(INVS):c.2614C>T (p.Gln872Ter) rs374520570
NM_014425.5(INVS):c.2686G>A (p.Val896Ile) rs114847355
NM_014425.5(INVS):c.2686G>C (p.Val896Leu) rs114847355
NM_014425.5(INVS):c.2719C>T (p.Arg907Ter) rs267607185
NM_014425.5(INVS):c.273+3G>A rs2118895764
NM_014425.5(INVS):c.2737T>C (p.Phe913Leu)
NM_014425.5(INVS):c.2750A>G (p.Asn917Ser) rs2118764879
NM_014425.5(INVS):c.2786+2T>C rs1322951938
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.2887C>T (p.Gln963Ter) rs1425211517
NM_014425.5(INVS):c.2935G>A (p.Val979Ile) rs2490134616
NM_014425.5(INVS):c.2949dup (p.Lys984fs) rs1588153872
NM_014425.5(INVS):c.2966G>A (p.Gly989Asp)
NM_014425.5(INVS):c.2972C>G (p.Ser991Ter) rs1329661241
NM_014425.5(INVS):c.2987C>A (p.Thr996Asn)
NM_014425.5(INVS):c.300dup (p.Leu101fs)
NM_014425.5(INVS):c.3051A>G (p.Thr1017=) rs1381275842
NM_014425.5(INVS):c.3056C>A (p.Ser1019Tyr)
NM_014425.5(INVS):c.3056C>G (p.Ser1019Cys) rs886063272
NM_014425.5(INVS):c.3062_3063del (p.Lys1021fs) rs2490137922
NM_014425.5(INVS):c.3068_3069del (p.Ser1023fs)
NM_014425.5(INVS):c.3076C>G (p.Leu1026Val)
NM_014425.5(INVS):c.3091+2dup
NM_014425.5(INVS):c.3109A>T (p.Ile1037Leu)
NM_014425.5(INVS):c.3137_3138insTTC (p.Ser1046dup) rs778453251
NM_014425.5(INVS):c.3152delinsGT (p.Tyr1051fs)
NM_014425.5(INVS):c.3153T>A (p.Tyr1051Ter)
NM_014425.5(INVS):c.3182dup (p.Asn1061fs) rs760013326
NM_014425.5(INVS):c.320G>A (p.Trp107Ter)
NM_014425.5(INVS):c.325C>T (p.Gln109Ter) rs2491192429
NM_014425.5(INVS):c.336G>A (p.Leu112=) rs1564165829
NM_014425.5(INVS):c.355C>T (p.His119Tyr)
NM_014425.5(INVS):c.364A>C (p.Thr122Pro)
NM_014425.5(INVS):c.369G>T (p.Arg123=)
NM_014425.5(INVS):c.401_413del (p.Leu134fs)
NM_014425.5(INVS):c.448-19G>T rs760646531
NM_014425.5(INVS):c.461A>G (p.His154Arg) rs1386694263
NM_014425.5(INVS):c.461A>T (p.His154Leu)
NM_014425.5(INVS):c.469G>A (p.Ala157Thr) rs1831445347
NM_014425.5(INVS):c.497_512dup (p.His171fs) rs779545419
NM_014425.5(INVS):c.561C>G (p.His187Gln)
NM_014425.5(INVS):c.572A>C (p.Asn191Thr)
NM_014425.5(INVS):c.665G>A (p.Arg222Gln)
NM_014425.5(INVS):c.726A>G (p.Ser242=)
NM_014425.5(INVS):c.753T>G (p.Tyr251Ter) rs2118494165
NM_014425.5(INVS):c.767G>A (p.Arg256Gln)
NM_014425.5(INVS):c.775C>T (p.Leu259=) rs886063264
NM_014425.5(INVS):c.778C>T (p.His260Tyr) rs2491236702
NM_014425.5(INVS):c.796+5G>A rs1272619479
NM_014425.5(INVS):c.805_806del (p.Gln269fs) rs2491244807
NM_014425.5(INVS):c.833del (p.Asn278fs) rs1166667492
NM_014425.5(INVS):c.849C>T (p.Ile283=) rs886038605
NM_014425.5(INVS):c.875C>T (p.Pro292Leu) rs1831916010
NM_014425.5(INVS):c.907G>A (p.Glu303Lys)
NM_014425.5(INVS):c.932A>T (p.His311Leu)
NM_014425.5(INVS):c.[796+5G>A;805_806del]
Single allele

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