ClinVar Miner

List of variants reported as uncertain significance for Shprintzen-Goldberg syndrome by Labcorp Genetics (formerly Invitae), Labcorp

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 325
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HGVS dbSNP gnomAD frequency
NM_003036.4(SKI):c.242C>A (p.Pro81Gln) rs542659326 0.00008
NM_003036.4(SKI):c.2056G>A (p.Ala686Thr) rs756553942 0.00006
NM_003036.4(SKI):c.247C>T (p.Pro83Ser) rs201590284 0.00006
NM_003036.4(SKI):c.1636C>T (p.Arg546Trp) rs774648274 0.00005
NM_003036.4(SKI):c.1042G>A (p.Glu348Lys) rs370217718 0.00004
NM_003036.4(SKI):c.1547C>T (p.Pro516Leu) rs781193859 0.00004
NM_003036.4(SKI):c.1906C>T (p.Arg636Cys) rs143354709 0.00004
NM_003036.4(SKI):c.1000C>T (p.Pro334Ser) rs775433131 0.00003
NM_003036.4(SKI):c.142A>C (p.Lys48Gln) rs946543006 0.00003
NM_003036.4(SKI):c.1767+11C>T rs202132957 0.00003
NM_003036.4(SKI):c.1817C>T (p.Thr606Met) rs753862105 0.00003
NM_003036.4(SKI):c.593C>T (p.Pro198Leu) rs1371410513 0.00003
NM_003036.4(SKI):c.878G>A (p.Gly293Asp) rs756571135 0.00003
NM_003036.4(SKI):c.915C>G (p.Asp305Glu) rs900879745 0.00003
NM_003036.4(SKI):c.964C>T (p.Pro322Ser) rs779317743 0.00003
NM_003036.4(SKI):c.1069C>T (p.Arg357Trp) rs370418830 0.00002
NM_003036.4(SKI):c.1081G>A (p.Gly361Ser) rs759663808 0.00002
NM_003036.4(SKI):c.1118G>A (p.Arg373His) rs768924434 0.00002
NM_003036.4(SKI):c.1264G>A (p.Ala422Thr) rs760579911 0.00002
NM_003036.4(SKI):c.1268C>T (p.Pro423Leu) rs752779978 0.00002
NM_003036.4(SKI):c.1336C>T (p.Leu446Phe) rs1464178129 0.00002
NM_003036.4(SKI):c.1708C>T (p.Arg570Cys) rs377517039 0.00002
NM_003036.4(SKI):c.625C>A (p.Leu209Met) rs771298442 0.00002
NM_003036.4(SKI):c.892G>T (p.Ala298Ser) rs769113221 0.00002
NM_003036.4(SKI):c.938A>G (p.Tyr313Cys) rs767730615 0.00002
NM_003036.4(SKI):c.1006A>G (p.Thr336Ala) rs1347876005 0.00001
NM_003036.4(SKI):c.1117C>T (p.Arg373Cys) rs749507746 0.00001
NM_003036.4(SKI):c.116C>T (p.Ser39Leu) rs746485528 0.00001
NM_003036.4(SKI):c.1193C>T (p.Pro398Leu) rs776248526 0.00001
NM_003036.4(SKI):c.1243G>A (p.Val415Met) rs770481744 0.00001
NM_003036.4(SKI):c.1247C>T (p.Ala416Val) rs775044622 0.00001
NM_003036.4(SKI):c.1294A>G (p.Ser432Gly) rs368739670 0.00001
NM_003036.4(SKI):c.1330G>A (p.Glu444Lys) rs747693633 0.00001
NM_003036.4(SKI):c.1417G>A (p.Ala473Thr) rs371772366 0.00001
NM_003036.4(SKI):c.1420C>G (p.Pro474Ala) rs1057518494 0.00001
NM_003036.4(SKI):c.1474+4C>T rs780930093 0.00001
NM_003036.4(SKI):c.149A>T (p.Glu50Val) rs1158589836 0.00001
NM_003036.4(SKI):c.1505C>T (p.Pro502Leu) rs1057520161 0.00001
NM_003036.4(SKI):c.1562T>C (p.Leu521Pro) rs1161295504 0.00001
NM_003036.4(SKI):c.1700T>C (p.Val567Ala) rs887731777 0.00001
NM_003036.4(SKI):c.173C>G (p.Ala58Gly) rs1638564960 0.00001
NM_003036.4(SKI):c.1767+6C>T rs780191562 0.00001
NM_003036.4(SKI):c.1795A>G (p.Lys599Glu) rs761706108 0.00001
NM_003036.4(SKI):c.2014G>A (p.Val672Met) rs1339249855 0.00001
NM_003036.4(SKI):c.2029G>A (p.Ala677Thr) rs1254335229 0.00001
NM_003036.4(SKI):c.2040C>G (p.Asp680Glu) rs557791923 0.00001
NM_003036.4(SKI):c.2074C>T (p.Arg692Cys) rs1341756519 0.00001
NM_003036.4(SKI):c.2084G>A (p.Arg695Gln) rs1038419071 0.00001
NM_003036.4(SKI):c.2168C>A (p.Ala723Asp) rs1264586139 0.00001
NM_003036.4(SKI):c.2171C>T (p.Ala724Val) rs1553201577 0.00001
NM_003036.4(SKI):c.2175G>C (p.Glu725Asp) rs1381348497 0.00001
NM_003036.4(SKI):c.235A>G (p.Ile79Val) rs1638568678 0.00001
NM_003036.4(SKI):c.340G>A (p.Val114Met) rs1165144413 0.00001
NM_003036.4(SKI):c.435G>C (p.Glu145Asp) rs1221007732 0.00001
NM_003036.4(SKI):c.461C>T (p.Thr154Met) rs1275592565 0.00001
NM_003036.4(SKI):c.464C>G (p.Ala155Gly) rs559020511 0.00001
NM_003036.4(SKI):c.562G>A (p.Ala188Thr) rs377092419 0.00001
NM_003036.4(SKI):c.795G>C (p.Lys265Asn) rs1457407953 0.00001
NM_003036.4(SKI):c.919G>A (p.Val307Met) rs775192483 0.00001
NM_003036.4(SKI):c.923A>G (p.Lys308Arg) rs1276404635 0.00001
NM_003036.4(SKI):c.925G>A (p.Glu309Lys) rs1553190080 0.00001
NM_003036.4(SKI):c.974C>T (p.Ser325Phe) rs779414606 0.00001
NM_003036.4(SKI):c.986C>T (p.Pro329Leu) rs1407167491 0.00001
NC_000001.10:g.(?_1146935)_(3768971_?)del
NC_000001.10:g.(?_2160186)_(2238224_?)dup
NC_000001.10:g.(?_2160206)_(2161194_?)dup
NC_000001.10:g.(?_2234397)_(2238204_?)dup
NC_000001.10:g.(?_955543)_(2957600_?)del
NM_003036.4(SKI):c.1015A>G (p.Thr339Ala)
NM_003036.4(SKI):c.1019C>T (p.Ser340Phe) rs557788926
NM_003036.4(SKI):c.1030C>T (p.Pro344Ser)
NM_003036.4(SKI):c.1043A>C (p.Glu348Ala)
NM_003036.4(SKI):c.104C>G (p.Pro35Arg) rs397514589
NM_003036.4(SKI):c.1051A>G (p.Lys351Glu)
NM_003036.4(SKI):c.1054C>A (p.Pro352Thr) rs755862763
NM_003036.4(SKI):c.1055C>T (p.Pro352Leu)
NM_003036.4(SKI):c.1061G>T (p.Ser354Ile)
NM_003036.4(SKI):c.1067T>A (p.Leu356Gln) rs1640467596
NM_003036.4(SKI):c.1076T>C (p.Leu359Ser)
NM_003036.4(SKI):c.1087T>A (p.Ser363Thr)
NM_003036.4(SKI):c.1091A>T (p.Asn364Ile) rs763338270
NM_003036.4(SKI):c.1095+5T>C rs2100916508
NM_003036.4(SKI):c.1095+6G>A
NM_003036.4(SKI):c.1095G>A (p.Lys365=)
NM_003036.4(SKI):c.1096-6C>G
NM_003036.4(SKI):c.1096-8C>G
NM_003036.4(SKI):c.1096A>C (p.Ser366Arg) rs1269741981
NM_003036.4(SKI):c.10G>C (p.Ala4Pro) rs1638560343
NM_003036.4(SKI):c.1102G>A (p.Gly368Ser)
NM_003036.4(SKI):c.1105T>C (p.Cys369Arg)
NM_003036.4(SKI):c.1114C>T (p.Pro372Ser)
NM_003036.4(SKI):c.1117C>G (p.Arg373Gly) rs749507746
NM_003036.4(SKI):c.1123C>T (p.Arg375Cys) rs1038237858
NM_003036.4(SKI):c.1126C>T (p.Leu376Phe)
NM_003036.4(SKI):c.1150C>T (p.Pro384Ser) rs1242691039
NM_003036.4(SKI):c.1157T>C (p.Val386Ala)
NM_003036.4(SKI):c.1166G>T (p.Ser389Ile)
NM_003036.4(SKI):c.1177C>T (p.Leu393Phe)
NM_003036.4(SKI):c.1189C>T (p.Leu397Phe) rs371268096
NM_003036.4(SKI):c.1192C>T (p.Pro398Ser) rs1640476669
NM_003036.4(SKI):c.11C>T (p.Ala4Val) rs1085307767
NM_003036.4(SKI):c.1208A>C (p.Asp403Ala)
NM_003036.4(SKI):c.1211+2T>G
NM_003036.4(SKI):c.1212-3C>T
NM_003036.4(SKI):c.1215C>G (p.Phe405Leu) rs2100918174
NM_003036.4(SKI):c.1240G>T (p.Ala414Ser)
NM_003036.4(SKI):c.1255G>A (p.Val419Met)
NM_003036.4(SKI):c.1298C>G (p.Pro433Arg)
NM_003036.4(SKI):c.1298C>T (p.Pro433Leu) rs748787050
NM_003036.4(SKI):c.1298del (p.Pro433fs)
NM_003036.4(SKI):c.1306G>A (p.Ala436Thr) rs1247637685
NM_003036.4(SKI):c.1307C>T (p.Ala436Val)
NM_003036.4(SKI):c.1309G>C (p.Ala437Pro)
NM_003036.4(SKI):c.1312G>A (p.Ala438Thr)
NM_003036.4(SKI):c.1314_1315delinsGT (p.Val439Phe)
NM_003036.4(SKI):c.1315G>T (p.Val439Phe) rs575093513
NM_003036.4(SKI):c.1322G>A (p.Arg441Gln)
NM_003036.4(SKI):c.1327C>G (p.Pro443Ala) rs1569860183
NM_003036.4(SKI):c.1346G>C (p.Cys449Ser) rs2100918643
NM_003036.4(SKI):c.1354C>A (p.Pro452Thr) rs1417738788
NM_003036.4(SKI):c.1357C>T (p.Arg453Trp)
NM_003036.4(SKI):c.1363C>T (p.Arg455Trp) rs1640495570
NM_003036.4(SKI):c.1376T>G (p.Val459Gly)
NM_003036.4(SKI):c.137C>T (p.Ala46Val)
NM_003036.4(SKI):c.1388G>A (p.Gly463Glu) rs1640496768
NM_003036.4(SKI):c.1391C>T (p.Ala464Val)
NM_003036.4(SKI):c.1394C>T (p.Pro465Leu)
NM_003036.4(SKI):c.1408C>T (p.Pro470Ser)
NM_003036.4(SKI):c.1411G>A (p.Val471Met) rs745717087
NM_003036.4(SKI):c.1418C>T (p.Ala473Val) rs1198385228
NM_003036.4(SKI):c.1434G>C (p.Lys478Asn)
NM_003036.4(SKI):c.1439CGGAGG[1] (p.Ala482_Glu483del) rs762410895
NM_003036.4(SKI):c.1469A>G (p.Glu490Gly)
NM_003036.4(SKI):c.1474+5G>A
NM_003036.4(SKI):c.1475T>C (p.Phe492Ser)
NM_003036.4(SKI):c.1477A>T (p.Thr493Ser)
NM_003036.4(SKI):c.1478CCT[2] (p.Ser495del)
NM_003036.4(SKI):c.1485_1487del (p.Leu496del) rs1640510054
NM_003036.4(SKI):c.1488G>C (p.Leu496Phe)
NM_003036.4(SKI):c.1493C>T (p.Ser498Leu)
NM_003036.4(SKI):c.1494G>A (p.Ser498=)
NM_003036.4(SKI):c.1504C>T (p.Pro502Ser)
NM_003036.4(SKI):c.1505C>G (p.Pro502Arg)
NM_003036.4(SKI):c.1512T>G (p.Phe504Leu)
NM_003036.4(SKI):c.1555C>T (p.Arg519Cys) rs775800782
NM_003036.4(SKI):c.1556G>T (p.Arg519Leu) rs376322470
NM_003036.4(SKI):c.1564C>T (p.Pro522Ser) rs774937962
NM_003036.4(SKI):c.1567T>G (p.Ser523Ala)
NM_003036.4(SKI):c.157A>C (p.Lys53Gln)
NM_003036.4(SKI):c.1581TGC[1] (p.Ala530del) rs863223725
NM_003036.4(SKI):c.1582G>T (p.Ala528Ser)
NM_003036.4(SKI):c.1589C>T (p.Ala530Val)
NM_003036.4(SKI):c.1592C>T (p.Pro531Leu)
NM_003036.4(SKI):c.160G>A (p.Glu54Lys)
NM_003036.4(SKI):c.1637G>T (p.Arg546Leu)
NM_003036.4(SKI):c.163G>A (p.Ala55Thr) rs769506718
NM_003036.4(SKI):c.1642G>T (p.Ala548Ser) rs1434790266
NM_003036.4(SKI):c.1651G>T (p.Gly551Cys) rs1225179301
NM_003036.4(SKI):c.1654G>C (p.Gly552Arg)
NM_003036.4(SKI):c.1682A>G (p.Lys561Arg)
NM_003036.4(SKI):c.1690C>G (p.His564Asp) rs1640518223
NM_003036.4(SKI):c.1706T>C (p.Met569Thr)
NM_003036.4(SKI):c.1709G>A (p.Arg570His)
NM_003036.4(SKI):c.1726A>C (p.Lys576Gln)
NM_003036.4(SKI):c.1729C>G (p.Leu577Val)
NM_003036.4(SKI):c.1738G>A (p.Ala580Thr) rs1640519904
NM_003036.4(SKI):c.173_178dup (p.Ala59_Val60insAlaAla)
NM_003036.4(SKI):c.1741C>G (p.Leu581Val)
NM_003036.4(SKI):c.1751A>G (p.Lys584Arg) rs1569862379
NM_003036.4(SKI):c.1754G>A (p.Arg585His) rs1251950898
NM_003036.4(SKI):c.1759C>T (p.Leu587Phe)
NM_003036.4(SKI):c.1765C>A (p.Gln589Lys)
NM_003036.4(SKI):c.1767+1G>C
NM_003036.4(SKI):c.1768-3C>T
NM_003036.4(SKI):c.1774G>C (p.Glu592Gln) rs1569865485
NM_003036.4(SKI):c.1775_1789del (p.Glu592_Val596del) rs1640564388
NM_003036.4(SKI):c.1786G>T (p.Val596Leu) rs774196267
NM_003036.4(SKI):c.178G>A (p.Val60Met)
NM_003036.4(SKI):c.178G>C (p.Val60Leu)
NM_003036.4(SKI):c.1807C>T (p.Arg603Trp) rs1640565489
NM_003036.4(SKI):c.1828C>T (p.Arg610Cys) rs863223727
NM_003036.4(SKI):c.182C>T (p.Pro61Leu) rs1557806444
NM_003036.4(SKI):c.1837C>T (p.Arg613Trp)
NM_003036.4(SKI):c.1848C>G (p.Ile616Met) rs1044806468
NM_003036.4(SKI):c.184G>T (p.Ala62Ser)
NM_003036.4(SKI):c.1861G>A (p.Ala621Thr)
NM_003036.4(SKI):c.1866G>C (p.Glu622Asp)
NM_003036.4(SKI):c.1870G>A (p.Glu624Lys)
NM_003036.4(SKI):c.1871AGA[2] (p.Lys626del) rs863223726
NM_003036.4(SKI):c.1879A>G (p.Met627Val) rs2100924200
NM_003036.4(SKI):c.1891_1893del (p.Asn631del)
NM_003036.4(SKI):c.1901G>A (p.Arg634Gln)
NM_003036.4(SKI):c.190_191delinsTC (p.Val64Ser)
NM_003036.4(SKI):c.1918G>A (p.Glu640Lys) rs1640570925
NM_003036.4(SKI):c.191_196dup (p.Val64_Pro65dup) rs1553189874
NM_003036.4(SKI):c.1934G>A (p.Arg645Gln)
NM_003036.4(SKI):c.1942C>G (p.Arg648Gly) rs555623960
NM_003036.4(SKI):c.1943G>A (p.Arg648Gln)
NM_003036.4(SKI):c.195_196delinsAC (p.Ala66Pro)
NM_003036.4(SKI):c.1966_1967insTCCCAGCCGGAAAGGCCTTGGAGCAGAAGCCAGGCCCGGGACCACGTTCCGTGCGTGCCCCCCCGA (p.Ala656delinsValProAlaGlyLysAlaLeuGluGlnLysProGlyProGlyProArgSerValArgAlaProProThr)
NM_003036.4(SKI):c.196G>A (p.Ala66Thr)
NM_003036.4(SKI):c.196G>C (p.Ala66Pro) rs1212316098
NM_003036.4(SKI):c.1972C>T (p.Arg658Cys)
NM_003036.4(SKI):c.1993G>A (p.Ala665Thr) rs1569866460
NM_003036.4(SKI):c.1998+1G>T
NM_003036.4(SKI):c.1998+6C>T rs1265118842
NM_003036.4(SKI):c.199_200delinsAA (p.Ala67Asn)
NM_003036.4(SKI):c.2006A>G (p.Asp669Gly)
NM_003036.4(SKI):c.2009T>G (p.Leu670Arg) rs1060502673
NM_003036.4(SKI):c.2011C>G (p.Gln671Glu)
NM_003036.4(SKI):c.2027A>G (p.His676Arg)
NM_003036.4(SKI):c.2028C>G (p.His676Gln) rs1203179478
NM_003036.4(SKI):c.2032G>A (p.Glu678Lys)
NM_003036.4(SKI):c.2053C>T (p.Arg685Trp)
NM_003036.4(SKI):c.2057C>G (p.Ala686Gly)
NM_003036.4(SKI):c.205G>C (p.Glu69Gln)
NM_003036.4(SKI):c.2061C>A (p.Asp687Glu) rs1021794039
NM_003036.4(SKI):c.2068C>T (p.Arg690Trp)
NM_003036.4(SKI):c.206A>G (p.Glu69Gly)
NM_003036.4(SKI):c.2081C>T (p.Ala694Val)
NM_003036.4(SKI):c.2083C>T (p.Arg695Trp) rs1347331671
NM_003036.4(SKI):c.2089C>T (p.His697Tyr)
NM_003036.4(SKI):c.2092C>G (p.Leu698Val) rs766929334
NM_003036.4(SKI):c.2111A>G (p.Glu704Gly) rs1553201549
NM_003036.4(SKI):c.2120A>G (p.Glu707Gly) rs2100926034
NM_003036.4(SKI):c.2123A>T (p.Gln708Leu)
NM_003036.4(SKI):c.2141G>T (p.Arg714Leu)
NM_003036.4(SKI):c.2143C>T (p.Pro715Ser)
NM_003036.4(SKI):c.2144C>T (p.Pro715Leu) rs1640595714
NM_003036.4(SKI):c.2146G>A (p.Glu716Lys) rs1640595885
NM_003036.4(SKI):c.214C>T (p.Pro72Ser)
NM_003036.4(SKI):c.2152_*3dup (p.Ala717_Ter729=) rs1557854927
NM_003036.4(SKI):c.2153C>G (p.Ala718Gly) rs863223721
NM_003036.4(SKI):c.2154_*4dup (p.Ala718_Ter729=) rs1308786369
NM_003036.4(SKI):c.2156_2173dup (p.Ala724_Glu725insGlySerGluGlyAlaAla)
NM_003036.4(SKI):c.2160C>G (p.Ser720Arg)
NM_003036.4(SKI):c.2165G>T (p.Gly722Val) rs1488554459
NM_003036.4(SKI):c.2173G>C (p.Glu725Gln) rs1640597058
NM_003036.4(SKI):c.2174A>G (p.Glu725Gly)
NM_003036.4(SKI):c.217G>A (p.Val73Met)
NM_003036.4(SKI):c.2182C>G (p.Pro728Ala)
NM_003036.4(SKI):c.2183C>G (p.Pro728Arg)
NM_003036.4(SKI):c.2185del (p.Ter729ArgextTer?)
NM_003036.4(SKI):c.2186_*9dup (p.Ter729=) rs1640597997
NM_003036.4(SKI):c.220C>G (p.Leu74Val)
NM_003036.4(SKI):c.229C>T (p.Pro77Ser) rs1370601989
NM_003036.4(SKI):c.22C>G (p.Arg8Gly) rs1254990952
NM_003036.4(SKI):c.240GCC[5] (p.Pro84dup) rs746731483
NM_003036.4(SKI):c.241C>G (p.Pro81Ala) rs778291636
NM_003036.4(SKI):c.244C>T (p.Pro82Ser)
NM_003036.4(SKI):c.248C>T (p.Pro83Leu) rs1060502672
NM_003036.4(SKI):c.254T>G (p.Val85Gly)
NM_003036.4(SKI):c.271T>G (p.Phe91Val) rs1638570021
NM_003036.4(SKI):c.272T>G (p.Phe91Cys)
NM_003036.4(SKI):c.278C>T (p.Pro93Leu) rs749071609
NM_003036.4(SKI):c.304G>A (p.Glu102Lys) rs1638570854
NM_003036.4(SKI):c.30_38del (p.Cys10_Pro13delinsTrp)
NM_003036.4(SKI):c.311T>C (p.Val104Ala) rs886039149
NM_003036.4(SKI):c.320G>A (p.Gly107Asp)
NM_003036.4(SKI):c.352G>A (p.Glu118Lys) rs869025525
NM_003036.4(SKI):c.358C>T (p.Arg120Cys) rs1569658411
NM_003036.4(SKI):c.35A>T (p.Gln12Leu)
NM_003036.4(SKI):c.36G>C (p.Gln12His)
NM_003036.4(SKI):c.383A>T (p.Asn128Ile)
NM_003036.4(SKI):c.414G>T (p.Gln138His)
NM_003036.4(SKI):c.419A>C (p.Asn140Thr) rs2100790187
NM_003036.4(SKI):c.433G>A (p.Glu145Lys)
NM_003036.4(SKI):c.442A>G (p.Ile148Val)
NM_003036.4(SKI):c.452C>G (p.Ser151Trp)
NM_003036.4(SKI):c.463G>T (p.Ala155Ser) rs867726673
NM_003036.4(SKI):c.471G>C (p.Gln157His)
NM_003036.4(SKI):c.487G>A (p.Val163Ile) rs878854599
NM_003036.4(SKI):c.491T>C (p.Met164Thr)
NM_003036.4(SKI):c.493G>A (p.Gly165Ser) rs1569658999
NM_003036.4(SKI):c.535A>C (p.Lys179Gln)
NM_003036.4(SKI):c.542A>G (p.Asp181Gly)
NM_003036.4(SKI):c.547G>A (p.Glu183Lys) rs1290478159
NM_003036.4(SKI):c.568C>G (p.Leu190Val)
NM_003036.4(SKI):c.572A>G (p.Tyr191Cys) rs758199656
NM_003036.4(SKI):c.574G>A (p.Gly192Ser) rs1638578159
NM_003036.4(SKI):c.584A>G (p.Tyr195Cys) rs1474048036
NM_003036.4(SKI):c.586C>T (p.Pro196Ser)
NM_003036.4(SKI):c.587C>T (p.Pro196Leu) rs1638578545
NM_003036.4(SKI):c.599A>G (p.Lys200Arg)
NM_003036.4(SKI):c.602A>G (p.Lys201Arg) rs2100790534
NM_003036.4(SKI):c.613G>A (p.Ala205Thr) rs2100790567
NM_003036.4(SKI):c.622G>C (p.Ala208Pro) rs761138564
NM_003036.4(SKI):c.623C>T (p.Ala208Val) rs1276237576
NM_003036.4(SKI):c.628G>T (p.Gly210Cys)
NM_003036.4(SKI):c.637C>T (p.Leu213Phe)
NM_003036.4(SKI):c.647G>A (p.Arg216His)
NM_003036.4(SKI):c.655C>T (p.Arg219Cys) rs1226163559
NM_003036.4(SKI):c.687G>C (p.Lys229Asn) rs750391739
NM_003036.4(SKI):c.6GGC[4] (p.Ala5dup) rs1638560188
NM_003036.4(SKI):c.700C>T (p.Pro234Ser)
NM_003036.4(SKI):c.718C>G (p.Pro240Ala)
NM_003036.4(SKI):c.723C>A (p.Ser241Arg)
NM_003036.4(SKI):c.723C>G (p.Ser241Arg) rs2100790799
NM_003036.4(SKI):c.757A>T (p.Met253Leu) rs767352419
NM_003036.4(SKI):c.759G>T (p.Met253Ile)
NM_003036.4(SKI):c.763C>T (p.Pro255Ser)
NM_003036.4(SKI):c.767C>T (p.Pro256Leu) rs2100790888
NM_003036.4(SKI):c.827T>A (p.Phe276Tyr) rs1557807366
NM_003036.4(SKI):c.839A>G (p.Asn280Ser)
NM_003036.4(SKI):c.83C>T (p.Ser28Phe) rs1569656949
NM_003036.4(SKI):c.840C>G (p.Asn280Lys)
NM_003036.4(SKI):c.847G>A (p.Ala283Thr)
NM_003036.4(SKI):c.848C>T (p.Ala283Val)
NM_003036.4(SKI):c.853A>G (p.Ile285Val)
NM_003036.4(SKI):c.853A>T (p.Ile285Phe) rs2100791027
NM_003036.4(SKI):c.863G>T (p.Ser288Ile) rs2100791046
NM_003036.4(SKI):c.872A>G (p.Tyr291Cys) rs1638585706
NM_003036.4(SKI):c.879C>T (p.Gly293=) rs543890429
NM_003036.4(SKI):c.896G>C (p.Arg299Pro) rs1482824984
NM_003036.4(SKI):c.898C>T (p.Leu300Phe) rs1569660908
NM_003036.4(SKI):c.89G>A (p.Ser30Asn)
NM_003036.4(SKI):c.8C>G (p.Ala3Gly) rs1553189801
NM_003036.4(SKI):c.8C>T (p.Ala3Val) rs1553189801
NM_003036.4(SKI):c.901G>C (p.Gly301Arg)
NM_003036.4(SKI):c.937T>A (p.Tyr313Asn)
NM_003036.4(SKI):c.937T>G (p.Tyr313Asp)
NM_003036.4(SKI):c.968G>T (p.Arg323Leu) rs1638589251
NM_003036.4(SKI):c.969G>C (p.Arg323=) rs747642639
NM_003036.4(SKI):c.972CTC[1] (p.Ser326del)
NM_003036.4(SKI):c.983C>T (p.Pro328Leu)

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