ClinVar Miner

List of variants in gene INVS reported as likely benign by Invitae

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 381
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HGVS dbSNP gnomAD frequency
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.1945G>A (p.Val649Met) rs115042730 0.00087
NM_014425.5(INVS):c.1925A>G (p.Lys642Arg) rs116314059 0.00076
NM_014425.5(INVS):c.2311G>A (p.Asp771Asn) rs115754570 0.00074
NM_014425.5(INVS):c.2517G>A (p.Lys839=) rs147041710 0.00070
NM_014425.5(INVS):c.2454G>A (p.Ala818=) rs115937161 0.00067
NM_014425.5(INVS):c.367C>T (p.Arg123Trp) rs149315279 0.00067
NM_014425.5(INVS):c.2313T>C (p.Asp771=) rs147112151 0.00059
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.1122G>A (p.Lys374=) rs140255233 0.00026
NM_014425.5(INVS):c.2664T>C (p.Ser888=) rs1052867 0.00026
NM_014425.5(INVS):c.114T>C (p.Ser38=) rs114056499 0.00022
NM_014425.5(INVS):c.1785-20T>G rs200028895 0.00018
NM_014425.5(INVS):c.198T>C (p.Ala66=) rs150557072 0.00012
NM_014425.5(INVS):c.2685C>T (p.Pro895=) rs371932940 0.00011
NM_014425.5(INVS):c.3099C>T (p.Asn1033=) rs368303175 0.00009
NM_014425.5(INVS):c.1038G>A (p.Ser346=) rs372355067 0.00006
NM_014425.5(INVS):c.1943A>G (p.Asn648Ser) rs116686341 0.00006
NM_014425.5(INVS):c.2643T>C (p.Pro881=) rs201128300 0.00006
NM_014425.5(INVS):c.274-14T>G rs201366153 0.00005
NM_014425.5(INVS):c.2907G>A (p.Leu969=) rs148601487 0.00005
NM_014425.5(INVS):c.912G>A (p.Thr304=) rs141109039 0.00005
NM_014425.5(INVS):c.1107T>C (p.His369=) rs760637052 0.00004
NM_014425.5(INVS):c.1111A>G (p.Ser371Gly) rs200546215 0.00004
NM_014425.5(INVS):c.1465-15T>G rs772436028 0.00004
NM_014425.5(INVS):c.1653C>T (p.Ile551=) rs781357714 0.00004
NM_014425.5(INVS):c.2307G>A (p.Pro769=) rs140706545 0.00004
NM_014425.5(INVS):c.972A>G (p.Thr324=) rs779527994 0.00004
NM_014425.5(INVS):c.1059T>G (p.Ala353=) rs764198130 0.00003
NM_014425.5(INVS):c.1116C>T (p.Thr372=) rs757492226 0.00003
NM_014425.5(INVS):c.1944C>T (p.Asn648=) rs369319343 0.00003
NM_014425.5(INVS):c.2201G>A (p.Arg734Gln) rs558958395 0.00003
NM_014425.5(INVS):c.2337G>C (p.Arg779=) rs779298889 0.00003
NM_014425.5(INVS):c.3153T>C (p.Tyr1051=) rs764214687 0.00003
NM_014425.5(INVS):c.444C>T (p.Asn148=) rs755575787 0.00003
NM_014425.5(INVS):c.1079-13G>C rs373264811 0.00002
NM_014425.5(INVS):c.1465-8G>A rs370130702 0.00002
NM_014425.5(INVS):c.1995T>C (p.Ser665=) rs762888351 0.00002
NM_014425.5(INVS):c.2001C>T (p.Gly667=) rs536554704 0.00002
NM_014425.5(INVS):c.2247G>A (p.Arg749=) rs769950635 0.00002
NM_014425.5(INVS):c.2760A>G (p.Ala920=) rs745573372 0.00002
NM_014425.5(INVS):c.1024C>T (p.Leu342=) rs761575712 0.00001
NM_014425.5(INVS):c.1079-7C>T rs1185982706 0.00001
NM_014425.5(INVS):c.1104C>T (p.Gly368=) rs775686671 0.00001
NM_014425.5(INVS):c.1235-18A>G rs1438355327 0.00001
NM_014425.5(INVS):c.1317C>T (p.Cys439=) rs886063266 0.00001
NM_014425.5(INVS):c.1482T>C (p.His494=) rs577839314 0.00001
NM_014425.5(INVS):c.1572A>G (p.Arg524=) rs187927206 0.00001
NM_014425.5(INVS):c.1671C>T (p.Ile557=) rs770524429 0.00001
NM_014425.5(INVS):c.1784+7A>T rs1036479094 0.00001
NM_014425.5(INVS):c.1797A>G (p.Glu599=) rs1192378189 0.00001
NM_014425.5(INVS):c.1992G>A (p.Gly664=) rs769810980 0.00001
NM_014425.5(INVS):c.2031C>T (p.Ser677=) rs756240366 0.00001
NM_014425.5(INVS):c.2394C>G (p.Leu798=) rs751531097 0.00001
NM_014425.5(INVS):c.2786+18T>C rs1362322226 0.00001
NM_014425.5(INVS):c.27T>C (p.Phe9=) rs777589570 0.00001
NM_014425.5(INVS):c.2847T>C (p.Asp949=) rs144478818 0.00001
NM_014425.5(INVS):c.2850G>T (p.Val950=) rs765818859 0.00001
NM_014425.5(INVS):c.3016+13C>A rs767170405 0.00001
NM_014425.5(INVS):c.3017-18del rs761040482 0.00001
NM_014425.5(INVS):c.33T>C (p.Gly11=) rs1554713054 0.00001
NM_014425.5(INVS):c.48A>G (p.Ser16=) rs1827110732 0.00001
NM_014425.5(INVS):c.501G>A (p.Leu167=) rs767884283 0.00001
NM_014425.5(INVS):c.657C>T (p.Tyr219=) rs1424949239 0.00001
NM_014425.5(INVS):c.66C>T (p.Ala22=) rs1419957613 0.00001
NM_014425.5(INVS):c.747G>A (p.Thr249=) rs570134046 0.00001
NM_014425.5(INVS):c.819C>G (p.Leu273=) rs1448130159 0.00001
NM_014425.5(INVS):c.867A>C (p.Gly289=) rs1227795087 0.00001
NM_014425.5(INVS):c.900C>T (p.Asn300=) rs752481190 0.00001
NM_014425.5(INVS):c.907-4A>C rs765148031 0.00001
NM_014425.5(INVS):c.907-7C>G rs1299007196 0.00001
NM_014425.5(INVS):c.1002T>C (p.Ser334=)
NM_014425.5(INVS):c.1005T>C (p.Asp335=)
NM_014425.5(INVS):c.1011C>T (p.Val337=)
NM_014425.5(INVS):c.1041C>T (p.Asp347=)
NM_014425.5(INVS):c.106+14_106+15insAC
NM_014425.5(INVS):c.106+15T>G
NM_014425.5(INVS):c.106+17A>T
NM_014425.5(INVS):c.106+18G>A
NM_014425.5(INVS):c.106+19dup rs1564114408
NM_014425.5(INVS):c.106+20A>G
NM_014425.5(INVS):c.106+7A>G
NM_014425.5(INVS):c.1068T>C (p.Tyr356=)
NM_014425.5(INVS):c.107-17G>A
NM_014425.5(INVS):c.107-9T>C
NM_014425.5(INVS):c.1078+10G>T
NM_014425.5(INVS):c.1078+11G>A
NM_014425.5(INVS):c.1078+15A>G
NM_014425.5(INVS):c.1078+18C>T
NM_014425.5(INVS):c.1078+19A>G
NM_014425.5(INVS):c.1078+6_1078+9dup rs1431121294
NM_014425.5(INVS):c.1078+9T>C
NM_014425.5(INVS):c.1079-10T>A
NM_014425.5(INVS):c.1079-13G>T
NM_014425.5(INVS):c.1079-6T>C
NM_014425.5(INVS):c.1113C>T (p.Ser371=) rs2118558999
NM_014425.5(INVS):c.1140T>C (p.Asn380=)
NM_014425.5(INVS):c.1234+15G>A
NM_014425.5(INVS):c.1234+15G>C
NM_014425.5(INVS):c.1234+17A>T
NM_014425.5(INVS):c.1234+18C>T
NM_014425.5(INVS):c.1234+19T>C
NM_014425.5(INVS):c.1234+7T>C
NM_014425.5(INVS):c.1235-10G>A
NM_014425.5(INVS):c.1235-12G>A
NM_014425.5(INVS):c.1235-19_1235-17del
NM_014425.5(INVS):c.1235-4C>G
NM_014425.5(INVS):c.1252C>T (p.Leu418=)
NM_014425.5(INVS):c.1254A>G (p.Leu418=)
NM_014425.5(INVS):c.1266T>C (p.Asp422=)
NM_014425.5(INVS):c.1272T>C (p.His424=) rs2118562757
NM_014425.5(INVS):c.1275T>C (p.Ser425=)
NM_014425.5(INVS):c.1308T>G (p.Ala436=)
NM_014425.5(INVS):c.132A>G (p.Glu44=)
NM_014425.5(INVS):c.1344T>C (p.Asn448=)
NM_014425.5(INVS):c.1347A>T (p.Pro449=)
NM_014425.5(INVS):c.1353C>A (p.Val451=) rs1488900404
NM_014425.5(INVS):c.1353C>T (p.Val451=)
NM_014425.5(INVS):c.1356G>A (p.Gln452=)
NM_014425.5(INVS):c.1378T>C (p.Leu460=)
NM_014425.5(INVS):c.1392A>C (p.Ala464=) rs1312406580
NM_014425.5(INVS):c.1392A>G (p.Ala464=)
NM_014425.5(INVS):c.1392A>T (p.Ala464=)
NM_014425.5(INVS):c.1401C>T (p.Gly467=) rs1377027576
NM_014425.5(INVS):c.1407C>T (p.Ile469=)
NM_014425.5(INVS):c.1413C>T (p.Cys471=)
NM_014425.5(INVS):c.1422T>C (p.Val474=)
NM_014425.5(INVS):c.1440A>G (p.Ala480=)
NM_014425.5(INVS):c.1461A>G (p.Lys487=)
NM_014425.5(INVS):c.1464+12G>A
NM_014425.5(INVS):c.1465-14G>A
NM_014425.5(INVS):c.1465-19T>C
NM_014425.5(INVS):c.1473A>G (p.Thr491=)
NM_014425.5(INVS):c.1494C>T (p.Asn498=)
NM_014425.5(INVS):c.1497T>C (p.Asn499=)
NM_014425.5(INVS):c.1506T>C (p.Leu502=)
NM_014425.5(INVS):c.1536T>C (p.Ala512=)
NM_014425.5(INVS):c.153A>G (p.Pro51=) rs1348116871
NM_014425.5(INVS):c.1560C>T (p.Asn520=) rs201691547
NM_014425.5(INVS):c.1571+15A>G
NM_014425.5(INVS):c.1571+17T>A
NM_014425.5(INVS):c.1572-12C>T
NM_014425.5(INVS):c.1572-16C>A
NM_014425.5(INVS):c.1578A>G (p.Thr526=)
NM_014425.5(INVS):c.1581C>T (p.Pro527=)
NM_014425.5(INVS):c.1590T>C (p.Tyr530=)
NM_014425.5(INVS):c.1599T>C (p.Leu533=)
NM_014425.5(INVS):c.1608C>A (p.Arg536=)
NM_014425.5(INVS):c.162T>C (p.Tyr54=)
NM_014425.5(INVS):c.1630T>C (p.Leu544=) rs1441867275
NM_014425.5(INVS):c.1632G>A (p.Leu544=)
NM_014425.5(INVS):c.1638C>T (p.His546=) rs758665047
NM_014425.5(INVS):c.1641T>C (p.Gly547=)
NM_014425.5(INVS):c.1659C>T (p.Ala553=)
NM_014425.5(INVS):c.165C>T (p.Cys55=)
NM_014425.5(INVS):c.1674C>A (p.Ala558=) rs143140689
NM_014425.5(INVS):c.1674C>T (p.Ala558=)
NM_014425.5(INVS):c.1683A>G (p.Lys561=)
NM_014425.5(INVS):c.1695C>G (p.Val565=)
NM_014425.5(INVS):c.1698C>T (p.Tyr566=) rs2118669089
NM_014425.5(INVS):c.1710G>A (p.Lys570=) rs750545598
NM_014425.5(INVS):c.1731C>T (p.Asp577=)
NM_014425.5(INVS):c.1758A>G (p.Glu586=)
NM_014425.5(INVS):c.1765A>C (p.Arg589=)
NM_014425.5(INVS):c.1773T>C (p.Asp591=)
NM_014425.5(INVS):c.1784+15C>T
NM_014425.5(INVS):c.1784+16G>A
NM_014425.5(INVS):c.1784+19G>A
NM_014425.5(INVS):c.1784+8T>C rs781669059
NM_014425.5(INVS):c.1784+8T>G rs781669059
NM_014425.5(INVS):c.1785-18C>G
NM_014425.5(INVS):c.1785-20T>C
NM_014425.5(INVS):c.1818A>C (p.Ala606=)
NM_014425.5(INVS):c.1821A>G (p.Glu607=)
NM_014425.5(INVS):c.1833A>G (p.Gly611=)
NM_014425.5(INVS):c.1836G>A (p.Arg612=) rs1442102915
NM_014425.5(INVS):c.1837C>A (p.Arg613=)
NM_014425.5(INVS):c.1854C>T (p.Cys618=)
NM_014425.5(INVS):c.186T>C (p.Asp62=)
NM_014425.5(INVS):c.1884C>T (p.Ser628=)
NM_014425.5(INVS):c.1896G>A (p.Val632=) rs746617240
NM_014425.5(INVS):c.1908G>A (p.Gln636=) rs1205359268
NM_014425.5(INVS):c.1911C>T (p.Ser637=)
NM_014425.5(INVS):c.1920C>G (p.Pro640=)
NM_014425.5(INVS):c.1926G>A (p.Lys642=)
NM_014425.5(INVS):c.1941C>T (p.Gly647=)
NM_014425.5(INVS):c.1950C>G (p.Ala650=)
NM_014425.5(INVS):c.1950C>T (p.Ala650=) rs1833373353
NM_014425.5(INVS):c.1986A>G (p.Pro662=) rs1176710652
NM_014425.5(INVS):c.1996C>T (p.Leu666=) rs772048589
NM_014425.5(INVS):c.2001C>A (p.Gly667=)
NM_014425.5(INVS):c.2010C>T (p.Leu670=)
NM_014425.5(INVS):c.2046A>C (p.Gly682=)
NM_014425.5(INVS):c.2049A>T (p.Thr683=)
NM_014425.5(INVS):c.2068+10T>C
NM_014425.5(INVS):c.2068+11T>C
NM_014425.5(INVS):c.2068+14C>T
NM_014425.5(INVS):c.2068+19T>A
NM_014425.5(INVS):c.2068+7G>A
NM_014425.5(INVS):c.2068+7G>T
NM_014425.5(INVS):c.2069-11G>A
NM_014425.5(INVS):c.2069-11G>C
NM_014425.5(INVS):c.2069-18T>C
NM_014425.5(INVS):c.2069-8del
NM_014425.5(INVS):c.2073A>G (p.Thr691=)
NM_014425.5(INVS):c.2160C>G (p.Pro720=)
NM_014425.5(INVS):c.2193C>A (p.Gly731=) rs148758887
NM_014425.5(INVS):c.2208A>G (p.Ala736=) rs2118761192
NM_014425.5(INVS):c.2223C>T (p.Phe741=)
NM_014425.5(INVS):c.2283G>A (p.Arg761=)
NM_014425.5(INVS):c.2284C>A (p.Arg762=)
NM_014425.5(INVS):c.2286G>A (p.Arg762=)
NM_014425.5(INVS):c.2328C>G (p.Pro776=)
NM_014425.5(INVS):c.234C>T (p.Asp78=)
NM_014425.5(INVS):c.2367C>A (p.Ala789=)
NM_014425.5(INVS):c.2385T>A (p.Thr795=)
NM_014425.5(INVS):c.2412T>G (p.Ser804=) rs2787374
NM_014425.5(INVS):c.2415G>A (p.Pro805=) rs192492227
NM_014425.5(INVS):c.2415G>T (p.Pro805=)
NM_014425.5(INVS):c.2424T>C (p.Ser808=)
NM_014425.5(INVS):c.2436C>T (p.Gly812=)
NM_014425.5(INVS):c.2445G>A (p.Arg815=)
NM_014425.5(INVS):c.2457C>A (p.Val819=)
NM_014425.5(INVS):c.2460T>C (p.His820=)
NM_014425.5(INVS):c.2463T>C (p.Ala821=)
NM_014425.5(INVS):c.2466G>C (p.Gly822=)
NM_014425.5(INVS):c.2523A>G (p.Thr841=)
NM_014425.5(INVS):c.2532C>T (p.Leu844=)
NM_014425.5(INVS):c.2544G>A (p.Leu848=)
NM_014425.5(INVS):c.2563T>C (p.Leu855=)
NM_014425.5(INVS):c.2565G>A (p.Leu855=)
NM_014425.5(INVS):c.2577T>G (p.Ala859=) rs2118763681
NM_014425.5(INVS):c.2584C>T (p.Leu862=)
NM_014425.5(INVS):c.2592A>G (p.Thr864=)
NM_014425.5(INVS):c.2595T>G (p.Ser865=)
NM_014425.5(INVS):c.2604C>G (p.Ser868=)
NM_014425.5(INVS):c.2607G>A (p.Glu869=)
NM_014425.5(INVS):c.2613T>C (p.Phe871=)
NM_014425.5(INVS):c.2619A>G (p.Val873=)
NM_014425.5(INVS):c.2625G>A (p.Lys875=)
NM_014425.5(INVS):c.2652C>A (p.Leu884=)
NM_014425.5(INVS):c.2652C>G (p.Leu884=)
NM_014425.5(INVS):c.2658G>A (p.Gly886=)
NM_014425.5(INVS):c.2676C>T (p.Asp892=)
NM_014425.5(INVS):c.2695C>A (p.Arg899=) rs200844390
NM_014425.5(INVS):c.2700G>A (p.Leu900=) rs768063927
NM_014425.5(INVS):c.2727G>A (p.Arg909=)
NM_014425.5(INVS):c.273+15T>A
NM_014425.5(INVS):c.273+16T>C
NM_014425.5(INVS):c.2730G>A (p.Lys910=)
NM_014425.5(INVS):c.274-13_274-9del
NM_014425.5(INVS):c.274-14T>C
NM_014425.5(INVS):c.274-15T>A
NM_014425.5(INVS):c.274-16_274-15del
NM_014425.5(INVS):c.274-20_274-16del
NM_014425.5(INVS):c.2757A>G (p.Ala919=)
NM_014425.5(INVS):c.2769C>A (p.Ile923=) rs2118765013
NM_014425.5(INVS):c.276A>C (p.Gly92=) rs1554724084
NM_014425.5(INVS):c.2778C>A (p.Ala926=)
NM_014425.5(INVS):c.2782C>A (p.Arg928=) rs376879175
NM_014425.5(INVS):c.2784A>C (p.Arg928=)
NM_014425.5(INVS):c.2786+10T>C
NM_014425.5(INVS):c.2786+14G>A
NM_014425.5(INVS):c.2787-17_2787-16del rs1317434637
NM_014425.5(INVS):c.2787-4C>T
NM_014425.5(INVS):c.2787-8C>T
NM_014425.5(INVS):c.2799G>A (p.Arg933=)
NM_014425.5(INVS):c.2802G>A (p.Lys934=)
NM_014425.5(INVS):c.2808G>T (p.Leu936=) rs2118781641
NM_014425.5(INVS):c.2829G>A (p.Lys943=)
NM_014425.5(INVS):c.282T>C (p.Tyr94=)
NM_014425.5(INVS):c.2844A>G (p.Gly948=)
NM_014425.5(INVS):c.2868G>A (p.Glu956=)
NM_014425.5(INVS):c.2877A>G (p.Ala959=)
NM_014425.5(INVS):c.2898G>A (p.Arg966=)
NM_014425.5(INVS):c.2949C>G (p.Pro983=)
NM_014425.5(INVS):c.2949C>T (p.Pro983=)
NM_014425.5(INVS):c.2958A>C (p.Pro986=)
NM_014425.5(INVS):c.2967C>T (p.Gly989=)
NM_014425.5(INVS):c.2979A>G (p.Thr993=)
NM_014425.5(INVS):c.297C>G (p.Leu99=)
NM_014425.5(INVS):c.2985C>T (p.Ser995=)
NM_014425.5(INVS):c.3000G>A (p.Val1000=)
NM_014425.5(INVS):c.3016+15G>A rs1270671278
NM_014425.5(INVS):c.3017-11del
NM_014425.5(INVS):c.3017-17T>G
NM_014425.5(INVS):c.3017-20_3017-19del rs2118786046
NM_014425.5(INVS):c.3024T>C (p.Ser1008=)
NM_014425.5(INVS):c.3033G>C (p.Gly1011=)
NM_014425.5(INVS):c.3051A>G (p.Thr1017=) rs1381275842
NM_014425.5(INVS):c.3052A>C (p.Arg1018=)
NM_014425.5(INVS):c.3091+10C>G
NM_014425.5(INVS):c.3091+7C>T
NM_014425.5(INVS):c.3092-11del
NM_014425.5(INVS):c.3092-17del
NM_014425.5(INVS):c.3092-19T>G
NM_014425.5(INVS):c.3092-7T>C rs1588156673
NM_014425.5(INVS):c.309C>T (p.Arg103=)
NM_014425.5(INVS):c.3102A>G (p.Leu1034=) rs768286522
NM_014425.5(INVS):c.3129T>C (p.Ser1043=)
NM_014425.5(INVS):c.3138A>C (p.Ser1046=) rs889561540
NM_014425.5(INVS):c.3138A>G (p.Ser1046=)
NM_014425.5(INVS):c.3159G>A (p.Leu1053=)
NM_014425.5(INVS):c.3189A>C (p.Thr1063=)
NM_014425.5(INVS):c.330G>A (p.Lys110=)
NM_014425.5(INVS):c.336G>A (p.Leu112=) rs1564165829
NM_014425.5(INVS):c.357C>T (p.His119=) rs138668044
NM_014425.5(INVS):c.360G>A (p.Leu120=)
NM_014425.5(INVS):c.363C>T (p.Thr121=) rs1588103260
NM_014425.5(INVS):c.366C>T (p.Thr122=)
NM_014425.5(INVS):c.367C>A (p.Arg123=)
NM_014425.5(INVS):c.372C>T (p.His124=) rs1588103280
NM_014425.5(INVS):c.39A>G (p.Ser13=)
NM_014425.5(INVS):c.400C>T (p.Leu134=)
NM_014425.5(INVS):c.402G>A (p.Leu134=)
NM_014425.5(INVS):c.447+13C>G
NM_014425.5(INVS):c.447+18T>C
NM_014425.5(INVS):c.447+8A>C rs2118405041
NM_014425.5(INVS):c.447+9T>C
NM_014425.5(INVS):c.448-11C>T
NM_014425.5(INVS):c.448-19G>T rs760646531
NM_014425.5(INVS):c.459G>A (p.Leu153=)
NM_014425.5(INVS):c.462T>C (p.His154=)
NM_014425.5(INVS):c.477C>T (p.Tyr159=)
NM_014425.5(INVS):c.486T>C (p.Pro162=)
NM_014425.5(INVS):c.48A>T (p.Ser16=)
NM_014425.5(INVS):c.513T>C (p.His171=)
NM_014425.5(INVS):c.522C>T (p.Asn174=) rs2118428478
NM_014425.5(INVS):c.525T>A (p.Ile175=)
NM_014425.5(INVS):c.546C>G (p.Gly182=) rs1289228389
NM_014425.5(INVS):c.597C>T (p.His199=) rs2118429203
NM_014425.5(INVS):c.615+10A>G
NM_014425.5(INVS):c.615+12G>C
NM_014425.5(INVS):c.615+16C>A
NM_014425.5(INVS):c.616-11C>T
NM_014425.5(INVS):c.616-15G>A rs2118493033
NM_014425.5(INVS):c.621T>C (p.Ala207=)
NM_014425.5(INVS):c.640C>T (p.Leu214=) rs2118493268
NM_014425.5(INVS):c.66C>A (p.Ala22=)
NM_014425.5(INVS):c.708G>T (p.Val236=)
NM_014425.5(INVS):c.711T>C (p.Val237=)
NM_014425.5(INVS):c.717C>T (p.Val239=) rs2118493849
NM_014425.5(INVS):c.723C>T (p.Thr241=)
NM_014425.5(INVS):c.775C>T (p.Leu259=) rs886063264
NM_014425.5(INVS):c.777G>T (p.Leu259=)
NM_014425.5(INVS):c.796+11C>T
NM_014425.5(INVS):c.796+15G>A
NM_014425.5(INVS):c.796+17A>C
NM_014425.5(INVS):c.796+19C>T
NM_014425.5(INVS):c.796+20A>G
NM_014425.5(INVS):c.796+8A>G
NM_014425.5(INVS):c.797-14G>A
NM_014425.5(INVS):c.797-4T>C
NM_014425.5(INVS):c.797-5C>G
NM_014425.5(INVS):c.797-6T>C
NM_014425.5(INVS):c.797-9T>A
NM_014425.5(INVS):c.798C>A (p.Gly266=)
NM_014425.5(INVS):c.822T>G (p.Leu274=)
NM_014425.5(INVS):c.864A>G (p.Gln288=)
NM_014425.5(INVS):c.882C>T (p.His294=)
NM_014425.5(INVS):c.885T>C (p.Tyr295=)
NM_014425.5(INVS):c.88C>T (p.Leu30=)
NM_014425.5(INVS):c.906+14G>A
NM_014425.5(INVS):c.906+14del
NM_014425.5(INVS):c.906+16C>T
NM_014425.5(INVS):c.906+18A>G
NM_014425.5(INVS):c.906+20G>C
NM_014425.5(INVS):c.907-11T>C
NM_014425.5(INVS):c.907-13dup rs750082874
NM_014425.5(INVS):c.907-19A>T
NM_014425.5(INVS):c.90A>G (p.Leu30=)
NM_014425.5(INVS):c.912G>T (p.Thr304=) rs141109039
NM_014425.5(INVS):c.915T>A (p.Val305=)
NM_014425.5(INVS):c.954A>C (p.Ser318=)
NM_014425.5(INVS):c.954A>G (p.Ser318=) rs778265507
NM_014425.5(INVS):c.958C>T (p.Leu320=)
NM_014425.5(INVS):c.96G>A (p.Arg32=) rs1588000254
NM_014425.5(INVS):c.990T>G (p.Ala330=)
NM_014425.5(INVS):c.99C>G (p.Leu33=)

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