ClinVar Miner

List of variants in gene INVS reported as uncertain significance by Invitae

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 308
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HGVS dbSNP gnomAD frequency
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.2200C>T (p.Arg734Trp) rs370949695 0.00022
NM_014425.5(INVS):c.67G>A (p.Val23Ile) rs145303373 0.00021
NM_014425.5(INVS):c.1459A>C (p.Lys487Gln) rs398124271 0.00016
NM_014425.5(INVS):c.1220A>C (p.Gln407Pro) rs374662619 0.00014
NM_014425.5(INVS):c.1264G>C (p.Asp422His) rs145243134 0.00014
NM_014425.5(INVS):c.1787A>G (p.Lys596Arg) rs751587570 0.00012
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.307C>T (p.Arg103Cys) rs750863293 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.2444G>A (p.Arg815Gln) rs200477298 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.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.2089A>G (p.Lys697Glu) rs374381370 0.00005
NM_014425.5(INVS):c.524T>C (p.Ile175Thr) rs766187142 0.00005
NM_014425.5(INVS):c.800A>G (p.His267Arg) rs747248321 0.00005
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.1490G>A (p.Cys497Tyr) rs1296545586 0.00004
NM_014425.5(INVS):c.1913G>A (p.Arg638Gln) rs761806481 0.00004
NM_014425.5(INVS):c.2443C>T (p.Arg815Trp) rs564509196 0.00004
NM_014425.5(INVS):c.2453C>T (p.Ala818Val) rs115324411 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.1017A>C (p.Arg339Ser) rs201043963 0.00003
NM_014425.5(INVS):c.1065A>C (p.Lys355Asn) rs146667666 0.00003
NM_014425.5(INVS):c.1639G>C (p.Gly547Arg) rs368682890 0.00003
NM_014425.5(INVS):c.1654G>A (p.Ala552Thr) rs748693441 0.00003
NM_014425.5(INVS):c.1727G>A (p.Arg576Gln) rs758506682 0.00003
NM_014425.5(INVS):c.1815G>C (p.Glu605Asp) rs540466137 0.00003
NM_014425.5(INVS):c.2272G>A (p.Glu758Lys) rs767989658 0.00003
NM_014425.5(INVS):c.2279C>T (p.Ser760Phe) rs1324519096 0.00003
NM_014425.5(INVS):c.2819G>A (p.Arg940Gln) rs369751285 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_014425.5(INVS):c.815A>C (p.His272Pro) rs151080341 0.00003
NM_014425.5(INVS):c.817C>T (p.Leu273Phe) rs776929488 0.00003
NM_014425.5(INVS):c.1607G>A (p.Arg536His) rs752692382 0.00002
NM_014425.5(INVS):c.166G>A (p.Val56Met) rs778036236 0.00002
NM_014425.5(INVS):c.2009T>C (p.Leu670Pro) rs762112247 0.00002
NM_014425.5(INVS):c.2204G>A (p.Cys735Tyr) rs375485537 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.2696G>A (p.Arg899Gln) rs142177132 0.00002
NM_014425.5(INVS):c.2774G>A (p.Arg925His) rs370713515 0.00002
NM_014425.5(INVS):c.2959T>C (p.Ser987Pro) rs779291688 0.00002
NM_014425.5(INVS):c.3079C>T (p.Arg1027Cys) rs771248759 0.00002
NM_014425.5(INVS):c.3080G>A (p.Arg1027His) rs774849762 0.00002
NM_014425.5(INVS):c.3103C>G (p.Gln1035Glu) rs776279048 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.515A>G (p.Asp172Gly) rs377683634 0.00002
NM_014425.5(INVS):c.1016G>A (p.Arg339Lys) rs768193321 0.00001
NM_014425.5(INVS):c.1048A>G (p.Ile350Val) rs767638762 0.00001
NM_014425.5(INVS):c.1056G>C (p.Met352Ile) rs752714293 0.00001
NM_014425.5(INVS):c.10T>G (p.Ser4Ala) rs1827109569 0.00001
NM_014425.5(INVS):c.1177C>G (p.Pro393Ala) rs1441776664 0.00001
NM_014425.5(INVS):c.1256T>C (p.Val419Ala) rs1212072950 0.00001
NM_014425.5(INVS):c.1361A>C (p.Tyr454Ser) rs756863097 0.00001
NM_014425.5(INVS):c.1379T>G (p.Leu460Trp) rs878854980 0.00001
NM_014425.5(INVS):c.1387G>A (p.Ala463Thr) rs770018625 0.00001
NM_014425.5(INVS):c.1436A>G (p.Asn479Ser) rs773285164 0.00001
NM_014425.5(INVS):c.154C>T (p.Leu52Phe) rs758283111 0.00001
NM_014425.5(INVS):c.1595T>C (p.Leu532Ser) rs1446860684 0.00001
NM_014425.5(INVS):c.1606C>T (p.Arg536Cys) rs1228736160 0.00001
NM_014425.5(INVS):c.1633G>C (p.Glu545Gln) rs1832999935 0.00001
NM_014425.5(INVS):c.1686C>G (p.Ile562Met) rs767346175 0.00001
NM_014425.5(INVS):c.1790G>T (p.Arg597Leu) rs1291135236 0.00001
NM_014425.5(INVS):c.1976G>A (p.Arg659Lys) rs201738845 0.00001
NM_014425.5(INVS):c.1978G>A (p.Gly660Arg) rs1833374932 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.2156T>C (p.Val719Ala) rs1379171622 0.00001
NM_014425.5(INVS):c.2189C>T (p.Ala730Val) rs763766362 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.2284C>T (p.Arg762Trp) rs763460118 0.00001
NM_014425.5(INVS):c.2336G>A (p.Arg779Gln) rs771128055 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.2417C>T (p.Ala806Val) rs201824415 0.00001
NM_014425.5(INVS):c.2428C>T (p.Arg810Cys) rs984016152 0.00001
NM_014425.5(INVS):c.2468A>G (p.Gln823Arg) rs752586599 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.2603C>T (p.Ser868Phe) rs1300344847 0.00001
NM_014425.5(INVS):c.2714G>A (p.Arg905Lys) rs753100317 0.00001
NM_014425.5(INVS):c.2783G>A (p.Arg928Gln) rs376463532 0.00001
NM_014425.5(INVS):c.283C>T (p.Arg95Cys) rs1189239222 0.00001
NM_014425.5(INVS):c.2851G>A (p.Asp951Asn) rs1833809920 0.00001
NM_014425.5(INVS):c.2888A>T (p.Gln963Leu) rs996350769 0.00001
NM_014425.5(INVS):c.3016+5C>T rs142606077 0.00001
NM_014425.5(INVS):c.301C>T (p.Leu101Phe) rs757623556 0.00001
NM_014425.5(INVS):c.3068C>T (p.Ser1023Phe) rs769993446 0.00001
NM_014425.5(INVS):c.3071C>T (p.Ser1024Phe) rs778164167 0.00001
NM_014425.5(INVS):c.3149C>T (p.Ser1050Phe) rs969660773 0.00001
NM_014425.5(INVS):c.3184A>G (p.Lys1062Glu) rs750609488 0.00001
NM_014425.5(INVS):c.319T>G (p.Trp107Gly) rs1831309953 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.433C>A (p.Gln145Lys) rs745703727 0.00001
NM_014425.5(INVS):c.500T>C (p.Leu167Pro) rs374420212 0.00001
NM_014425.5(INVS):c.538G>A (p.Val180Ile) rs1206727122 0.00001
NM_014425.5(INVS):c.572A>G (p.Asn191Ser) rs1831448800 0.00001
NM_014425.5(INVS):c.590C>G (p.Ala197Gly) rs774469922 0.00001
NM_014425.5(INVS):c.625C>T (p.Pro209Ser) rs144729900 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.727T>C (p.Tyr243His) rs1206942379 0.00001
NM_014425.5(INVS):c.833A>G (p.Asn278Ser) rs1831914143 0.00001
NM_014425.5(INVS):c.890C>T (p.Ala297Val) rs759327541 0.00001
NM_014425.5(INVS):c.938C>T (p.Ser313Leu) rs756222867 0.00001
NM_014425.5(INVS):c.978T>G (p.Phe326Leu) rs1457973181 0.00001
NM_014425.5(INVS):c.986C>T (p.Ala329Val) rs1202806202 0.00001
NM_014425.5(INVS):c.997G>T (p.Gly333Cys) rs746333759 0.00001
NC_000009.11:g.(?_102866804)_(103035378_?)dup
NC_000009.11:g.(?_102988324)_(103062956_?)dup
NC_000009.11:g.(?_103004832)_(103009089_?)del
NC_000009.12:g.(?_100226042)_(100226255_?)del
NM_014425.5(INVS):c.1006G>A (p.Asp336Asn) rs760384200
NM_014425.5(INVS):c.1022T>G (p.Met341Arg) rs1397165748
NM_014425.5(INVS):c.104T>C (p.Val35Ala)
NM_014425.5(INVS):c.106+3A>C rs1827113455
NM_014425.5(INVS):c.106+6C>T rs1196750401
NM_014425.5(INVS):c.1099T>C (p.Ser367Pro)
NM_014425.5(INVS):c.1128A>T (p.Leu376Phe) rs2118559115
NM_014425.5(INVS):c.1135A>G (p.Asn379Asp) rs1832262518
NM_014425.5(INVS):c.1171C>T (p.His391Tyr) rs1181379253
NM_014425.5(INVS):c.1174A>G (p.Thr392Ala)
NM_014425.5(INVS):c.1189G>A (p.Ala397Thr)
NM_014425.5(INVS):c.118C>T (p.Leu40Phe) rs148219510
NM_014425.5(INVS):c.1200G>A (p.Met400Ile)
NM_014425.5(INVS):c.1208A>G (p.Lys403Arg) rs1564176658
NM_014425.5(INVS):c.1223C>T (p.Thr408Ile)
NM_014425.5(INVS):c.1255G>C (p.Val419Leu) rs2118562526
NM_014425.5(INVS):c.127_129del (p.Lys43del) rs757721719
NM_014425.5(INVS):c.1297G>A (p.Gly433Arg) rs2118562856
NM_014425.5(INVS):c.1315T>G (p.Cys439Gly)
NM_014425.5(INVS):c.1321A>C (p.Ile441Leu) rs1832286801
NM_014425.5(INVS):c.1342A>G (p.Asn448Asp) rs2118563086
NM_014425.5(INVS):c.1345C>T (p.Pro449Ser) rs753443905
NM_014425.5(INVS):c.1346C>T (p.Pro449Leu) rs1832287614
NM_014425.5(INVS):c.1355A>C (p.Gln452Pro) rs2118563198
NM_014425.5(INVS):c.1396G>A (p.Gly466Arg) rs1554726564
NM_014425.5(INVS):c.1399G>C (p.Gly467Arg) rs2118563520
NM_014425.5(INVS):c.1420G>A (p.Val474Ile)
NM_014425.5(INVS):c.1423C>T (p.Leu475Phe)
NM_014425.5(INVS):c.1429G>A (p.Glu477Lys) rs1832291428
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.1479G>C (p.Leu493Phe)
NM_014425.5(INVS):c.1492A>T (p.Asn498Tyr) rs1832737510
NM_014425.5(INVS):c.1496A>G (p.Asn499Ser) rs1564182761
NM_014425.5(INVS):c.149C>T (p.Thr50Ile)
NM_014425.5(INVS):c.1508A>T (p.Asp503Val) rs1832737838
NM_014425.5(INVS):c.1544C>T (p.Pro515Leu) rs1173094879
NM_014425.5(INVS):c.1547A>G (p.Asn516Ser)
NM_014425.5(INVS):c.1548T>G (p.Asn516Lys)
NM_014425.5(INVS):c.1561A>C (p.Asn521His) rs2118629746
NM_014425.5(INVS):c.1571+2dup rs1554728033
NM_014425.5(INVS):c.1571+5G>A rs1832740394
NM_014425.5(INVS):c.1576A>G (p.Thr526Ala) rs1050540680
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.1604A>G (p.Glu535Gly) rs1832999071
NM_014425.5(INVS):c.1639G>A (p.Gly547Ser) rs368682890
NM_014425.5(INVS):c.1667A>C (p.Asp556Ala)
NM_014425.5(INVS):c.1670T>G (p.Ile557Ser) rs1833001296
NM_014425.5(INVS):c.1672G>A (p.Ala558Thr)
NM_014425.5(INVS):c.1712T>C (p.Val571Ala) rs1236753815
NM_014425.5(INVS):c.1774G>C (p.Ala592Pro)
NM_014425.5(INVS):c.1784+6T>C
NM_014425.5(INVS):c.1784A>C (p.Lys595Thr) rs2118669515
NM_014425.5(INVS):c.1785-14G>A rs2118724157
NM_014425.5(INVS):c.178A>G (p.Arg60Gly) rs886038603
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.1837C>T (p.Arg613Trp) rs529208660
NM_014425.5(INVS):c.1865C>T (p.Ala622Val)
NM_014425.5(INVS):c.1882A>T (p.Ser628Cys)
NM_014425.5(INVS):c.1903A>G (p.Arg635Gly)
NM_014425.5(INVS):c.194A>G (p.Asp65Gly)
NM_014425.5(INVS):c.1990G>A (p.Gly664Arg) rs1397635177
NM_014425.5(INVS):c.1994C>G (p.Ser665Cys) rs533008444
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.2008C>T (p.Leu670Phe) rs754291892
NM_014425.5(INVS):c.2027T>A (p.Val676Asp) rs967224963
NM_014425.5(INVS):c.2029T>G (p.Ser677Ala)
NM_014425.5(INVS):c.2065A>C (p.Asn689His) rs1355652364
NM_014425.5(INVS):c.2088T>C (p.Ser696=)
NM_014425.5(INVS):c.2098T>C (p.Ser700Pro) rs1833645195
NM_014425.5(INVS):c.2102C>G (p.Ala701Gly)
NM_014425.5(INVS):c.2119C>T (p.Pro707Ser)
NM_014425.5(INVS):c.2123A>G (p.Asn708Ser) rs770047072
NM_014425.5(INVS):c.2143A>G (p.Arg715Gly) rs766691188
NM_014425.5(INVS):c.2149C>A (p.Pro717Thr)
NM_014425.5(INVS):c.2152G>C (p.Gly718Arg) rs1554730698
NM_014425.5(INVS):c.2173T>C (p.Ser725Pro)
NM_014425.5(INVS):c.2185A>C (p.Thr729Pro)
NM_014425.5(INVS):c.2185A>G (p.Thr729Ala)
NM_014425.5(INVS):c.2219G>T (p.Gly740Val)
NM_014425.5(INVS):c.2232G>C (p.Gln744His) rs748241492
NM_014425.5(INVS):c.2240G>A (p.Cys747Tyr)
NM_014425.5(INVS):c.2254G>A (p.Gly752Arg)
NM_014425.5(INVS):c.2299C>T (p.Leu767Phe)
NM_014425.5(INVS):c.2306C>T (p.Pro769Leu)
NM_014425.5(INVS):c.2334G>C (p.Arg778Ser)
NM_014425.5(INVS):c.2340T>A (p.His780Gln)
NM_014425.5(INVS):c.2350C>T (p.Pro784Ser) rs772382992
NM_014425.5(INVS):c.2351C>T (p.Pro784Leu) rs1401794025
NM_014425.5(INVS):c.2361A>G (p.Lys787=)
NM_014425.5(INVS):c.239G>A (p.Ser80Asn) rs1231356870
NM_014425.5(INVS):c.2414C>T (p.Pro805Leu) rs750979976
NM_014425.5(INVS):c.2447G>T (p.Gly816Val)
NM_014425.5(INVS):c.2489C>T (p.Thr830Ile) rs886063270
NM_014425.5(INVS):c.2522C>G (p.Thr841Arg) rs1833665476
NM_014425.5(INVS):c.2530C>T (p.Leu844Phe) rs2118763419
NM_014425.5(INVS):c.2540A>G (p.His847Arg)
NM_014425.5(INVS):c.2543T>C (p.Leu848Ser) rs2118763519
NM_014425.5(INVS):c.2557GAG[1] (p.Glu854del)
NM_014425.5(INVS):c.256C>G (p.His86Asp)
NM_014425.5(INVS):c.2576C>G (p.Ala859Gly)
NM_014425.5(INVS):c.2605G>A (p.Glu869Lys)
NM_014425.5(INVS):c.2610C>G (p.Asp870Glu)
NM_014425.5(INVS):c.2630C>T (p.Thr877Ile) rs1411773135
NM_014425.5(INVS):c.2647C>A (p.Pro883Thr) rs1833670830
NM_014425.5(INVS):c.2679_2681del (p.Leu894del) rs1833672293
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.269A>G (p.Gln90Arg) rs1827890162
NM_014425.5(INVS):c.2720G>T (p.Arg907Leu) rs781064013
NM_014425.5(INVS):c.2722A>G (p.Arg908Gly) rs1430951841
NM_014425.5(INVS):c.273+3G>A rs2118895764
NM_014425.5(INVS):c.273+5G>A rs1195767279
NM_014425.5(INVS):c.2752A>G (p.Lys918Glu)
NM_014425.5(INVS):c.2772G>T (p.Gln924His)
NM_014425.5(INVS):c.2779T>A (p.Trp927Arg)
NM_014425.5(INVS):c.2794C>T (p.Leu932Phe) rs2118781536
NM_014425.5(INVS):c.2805C>A (p.His935Gln) rs1265354401
NM_014425.5(INVS):c.2818C>G (p.Arg940Gly)
NM_014425.5(INVS):c.2818C>T (p.Arg940Trp)
NM_014425.5(INVS):c.2822A>C (p.His941Pro) rs886042226
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.2834T>A (p.Leu945His) rs757927270
NM_014425.5(INVS):c.2834T>C (p.Leu945Pro) rs757927270
NM_014425.5(INVS):c.2861G>A (p.Arg954Lys) rs2118781948
NM_014425.5(INVS):c.2866G>A (p.Glu956Lys)
NM_014425.5(INVS):c.2903A>C (p.Glu968Ala) rs1366429329
NM_014425.5(INVS):c.2905C>G (p.Leu969Val) rs1833811478
NM_014425.5(INVS):c.2941A>G (p.Lys981Glu) rs1833812606
NM_014425.5(INVS):c.2947C>G (p.Pro983Ala) rs2118782522
NM_014425.5(INVS):c.2984C>A (p.Ser995Tyr)
NM_014425.5(INVS):c.2986A>G (p.Thr996Ala)
NM_014425.5(INVS):c.2995T>C (p.Ser999Pro) rs1833814101
NM_014425.5(INVS):c.3017GTT[1] (p.Cys1007del)
NM_014425.5(INVS):c.3038T>G (p.Ile1013Arg) rs1833838349
NM_014425.5(INVS):c.3044A>T (p.His1015Leu) rs2118786271
NM_014425.5(INVS):c.3085A>G (p.Asn1029Asp)
NM_014425.5(INVS):c.3092-11_3092-6del rs1245384768
NM_014425.5(INVS):c.3128G>A (p.Ser1043Asn)
NM_014425.5(INVS):c.3137_3138insTTC (p.Ser1046dup) rs778453251
NM_014425.5(INVS):c.3182A>C (p.Asn1061Thr)
NM_014425.5(INVS):c.3185A>G (p.Lys1062Arg) rs758703044
NM_014425.5(INVS):c.3189_3193dup (p.Pro1065fs)
NM_014425.5(INVS):c.3193C>G (p.Pro1065Ala)
NM_014425.5(INVS):c.319T>C (p.Trp107Arg)
NM_014425.5(INVS):c.342G>C (p.Glu114Asp)
NM_014425.5(INVS):c.349C>T (p.Pro117Ser) rs1021818693
NM_014425.5(INVS):c.371A>G (p.His124Arg) rs1251662430
NM_014425.5(INVS):c.406T>A (p.Phe136Ile) rs1831314008
NM_014425.5(INVS):c.410T>C (p.Met137Thr) rs375209595
NM_014425.5(INVS):c.431C>T (p.Thr144Ile)
NM_014425.5(INVS):c.461A>G (p.His154Arg) rs1386694263
NM_014425.5(INVS):c.469G>A (p.Ala157Thr) rs1831445347
NM_014425.5(INVS):c.476A>G (p.Tyr159Cys) rs2118428051
NM_014425.5(INVS):c.487G>C (p.Glu163Gln) rs1831445837
NM_014425.5(INVS):c.536A>T (p.Asp179Val)
NM_014425.5(INVS):c.582T>A (p.Asp194Glu) rs2118429045
NM_014425.5(INVS):c.615G>C (p.Leu205=) rs140664868
NM_014425.5(INVS):c.67G>C (p.Val23Leu) rs145303373
NM_014425.5(INVS):c.6C>A (p.Asn2Lys) rs1827109471
NM_014425.5(INVS):c.722C>T (p.Thr241Ile) rs1248564172
NM_014425.5(INVS):c.772C>T (p.Pro258Ser) rs866679782
NM_014425.5(INVS):c.773C>G (p.Pro258Arg)
NM_014425.5(INVS):c.832A>G (p.Asn278Asp)
NM_014425.5(INVS):c.832A>T (p.Asn278Tyr)
NM_014425.5(INVS):c.907-3C>T
NM_014425.5(INVS):c.914T>G (p.Val305Gly)
NM_014425.5(INVS):c.916A>G (p.Lys306Glu) rs878854981
NM_014425.5(INVS):c.92A>G (p.Gln31Arg) rs1003287751
NM_014425.5(INVS):c.985G>T (p.Ala329Ser) rs1212648125
NM_014425.5(INVS):c.986C>A (p.Ala329Glu) rs1202806202

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