ClinVar Miner

List of variants studied for autosomal recessive severe congenital neutropenia due to CSF3R deficiency

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 540
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HGVS dbSNP gnomAD frequency
NM_000760.4(CSF3R):c.1260T>C (p.Thr420=) rs3917981 0.59625
NM_000760.4(CSF3R):c.1254T>C (p.Arg418=) rs3917980 0.28603
NM_000760.4(CSF3R):c.1528G>C (p.Asp510His) rs3917991 0.05672
NM_000760.4(CSF3R):c.692T>C (p.Met231Thr) rs3917973 0.02621
NM_000760.4(CSF3R):c.1037A>G (p.Gln346Arg) rs3917974 0.02609
NM_000760.4(CSF3R):c.958G>A (p.Asp320Asn) rs3918018 0.02119
NM_000760.4(CSF3R):c.105C>A (p.Ile35=) rs3917954 0.01973
NM_000760.4(CSF3R):c.726C>T (p.Ala242=) rs3918017 0.01333
NM_000760.4(CSF3R):c.1794C>T (p.Ile598=) rs3917998 0.00872
NM_000760.4(CSF3R):c.1684T>C (p.Tyr562His) rs3917996 0.00717
NM_000760.4(CSF3R):c.2422G>A (p.Glu808Lys) rs146617729 0.00588
NM_000760.4(CSF3R):c.1213G>A (p.Glu405Lys) rs3918019 0.00492
NM_000760.4(CSF3R):c.1319G>A (p.Arg440Gln) rs3918020 0.00363
NM_000760.4(CSF3R):c.447G>C (p.Glu149Asp) rs139332126 0.00300
NM_000760.4(CSF3R):c.2041-30C>T rs3918021 0.00270
NM_000760.4(CSF3R):c.108C>T (p.Val36=) rs3918011 0.00193
NM_000760.4(CSF3R):c.2407C>T (p.Pro803Ser) rs35622214 0.00185
NM_000760.4(CSF3R):c.1689C>A (p.Thr563=) rs113047241 0.00158
NM_000760.4(CSF3R):c.1748G>A (p.Arg583His) rs148104401 0.00158
NM_000760.4(CSF3R):c.2334G>A (p.Ala778=) rs116118817 0.00154
NM_000760.4(CSF3R):c.1458G>A (p.Thr486=) rs138289951 0.00150
NM_000760.4(CSF3R):c.1410G>A (p.Ala470=) rs3917988 0.00135
NM_000760.4(CSF3R):c.1919C>T (p.Thr640Ile) rs121918426 0.00135
NM_000760.4(CSF3R):c.704T>C (p.Met235Thr) rs141729889 0.00133
NM_000760.4(CSF3R):c.1577-12C>G rs200420429 0.00125
NM_000760.4(CSF3R):c.1856T>C (p.Leu619Ser) rs141619366 0.00115
NM_000760.4(CSF3R):c.355G>A (p.Ala119Thr) rs142999683 0.00089
NM_000760.4(CSF3R):c.1723+8T>C rs143931193 0.00076
NM_000760.4(CSF3R):c.2496G>A (p.Ala832=) rs150501885 0.00056
NM_000760.4(CSF3R):c.2197C>A (p.Pro733Thr) rs78861150 0.00042
NM_000760.4(CSF3R):c.1747C>T (p.Arg583Cys) rs3917997 0.00037
NM_000760.4(CSF3R):c.93C>T (p.Val31=) rs150277708 0.00036
NM_000760.4(CSF3R):c.2211C>T (p.Ser737=) rs376211630 0.00034
NM_000760.4(CSF3R):c.486-14T>G rs201903505 0.00032
NM_000760.4(CSF3R):c.2434G>A (p.Val812Ile) rs528303671 0.00031
NM_000760.4(CSF3R):c.61G>A (p.Gly21Arg) rs200059719 0.00029
NM_000760.4(CSF3R):c.1510G>A (p.Val504Met) rs145256322 0.00026
NM_000760.4(CSF3R):c.1640G>A (p.Trp547Ter) rs138156467 0.00026
NM_000760.4(CSF3R):c.272A>G (p.His91Arg) rs148307285 0.00026
NM_000760.4(CSF3R):c.765A>T (p.Pro255=) rs145439244 0.00023
NM_000760.4(CSF3R):c.855C>T (p.Leu285=) rs150784508 0.00019
NM_000760.4(CSF3R):c.1457C>T (p.Thr486Met) rs759506026 0.00016
NM_000760.4(CSF3R):c.1864+13G>A rs776320121 0.00016
NM_000760.4(CSF3R):c.1665G>T (p.Gly555=) rs139705992 0.00015
NM_000760.4(CSF3R):c.2194G>A (p.Asp732Asn) rs746747614 0.00015
NM_000760.4(CSF3R):c.1761C>T (p.Leu587=) rs149239453 0.00014
NM_000760.4(CSF3R):c.1864+12C>T rs368290894 0.00014
NM_000760.4(CSF3R):c.846G>T (p.Val282=) rs144166608 0.00014
NM_000760.4(CSF3R):c.1509C>T (p.Ile503=) rs142503546 0.00013
NM_000760.4(CSF3R):c.2072C>T (p.Pro691Leu) rs183614500 0.00013
NM_000760.4(CSF3R):c.1704C>T (p.Asn568=) rs373727880 0.00012
NM_000760.4(CSF3R):c.142A>G (p.Ile48Val) rs1047054210 0.00011
NM_000760.4(CSF3R):c.1242C>T (p.Ala414=) rs146435131 0.00010
NM_000760.4(CSF3R):c.2484T>C (p.His828=) rs149680734 0.00010
NM_000760.4(CSF3R):c.524T>C (p.Leu175Pro) rs377102404 0.00010
NM_000760.4(CSF3R):c.1028G>A (p.Arg343Gln) rs369185176 0.00009
NM_000760.4(CSF3R):c.1096G>A (p.Gly366Arg) rs768170625 0.00009
NM_000760.4(CSF3R):c.2167C>G (p.Leu723Val) rs766343562 0.00009
NM_000760.4(CSF3R):c.2427C>T (p.Asp809=) rs369185814 0.00009
NM_000760.4(CSF3R):c.361+17A>C rs373559200 0.00009
NM_000760.4(CSF3R):c.101C>T (p.Pro34Leu) rs34362628 0.00008
NM_000760.4(CSF3R):c.1185C>T (p.Cys395=) rs184980728 0.00008
NM_000760.4(CSF3R):c.1484G>C (p.Arg495Thr) rs769045336 0.00008
NM_000760.4(CSF3R):c.1724-15G>A rs371706347 0.00008
NM_000760.4(CSF3R):c.251A>C (p.Glu84Ala) rs565088221 0.00008
NM_000760.4(CSF3R):c.885C>T (p.Cys295=) rs747273831 0.00008
NM_000760.4(CSF3R):c.1358A>G (p.Asn453Ser) rs763953521 0.00007
NM_000760.4(CSF3R):c.2118G>A (p.Pro706=) rs776938018 0.00007
NM_000760.4(CSF3R):c.2242G>A (p.Asp748Asn) rs147017250 0.00007
NM_000760.4(CSF3R):c.1253G>A (p.Arg418His) rs564880597 0.00006
NM_000760.4(CSF3R):c.171G>A (p.Pro57=) rs200847455 0.00006
NM_000760.4(CSF3R):c.1812C>T (p.Ser604=) rs372180979 0.00006
NM_000760.4(CSF3R):c.2011G>A (p.Gly671Ser) rs1434097987 0.00006
NM_000760.4(CSF3R):c.234G>A (p.Leu78=) rs768137002 0.00006
NM_000760.4(CSF3R):c.353G>A (p.Arg118His) rs923298829 0.00006
NM_000760.4(CSF3R):c.560G>C (p.Cys187Ser) rs949262067 0.00006
NM_000760.4(CSF3R):c.60C>T (p.Pro20=) rs773341373 0.00006
NM_000760.4(CSF3R):c.1726G>A (p.Ala576Thr) rs373888342 0.00005
NM_000760.4(CSF3R):c.568C>T (p.Arg190Cys) rs757569036 0.00005
NM_000760.4(CSF3R):c.648A>C (p.Gln216His) rs747021516 0.00005
NM_000760.4(CSF3R):c.1027C>T (p.Arg343Trp) rs752325760 0.00004
NM_000760.4(CSF3R):c.1101G>C (p.Arg367=) rs1447131096 0.00004
NM_000760.4(CSF3R):c.1263G>A (p.Pro421=) rs768308980 0.00004
NM_000760.4(CSF3R):c.1408G>A (p.Ala470Thr) rs748675453 0.00004
NM_000760.4(CSF3R):c.1427C>G (p.Thr476Ser) rs374610386 0.00004
NM_000760.4(CSF3R):c.146A>G (p.Lys49Arg) rs766274573 0.00004
NM_000760.4(CSF3R):c.1613T>C (p.Ile538Thr) rs756719784 0.00004
NM_000760.4(CSF3R):c.1680C>G (p.Thr560=) rs748313890 0.00004
NM_000760.4(CSF3R):c.1871C>T (p.Ser624Leu) rs144754091 0.00004
NM_000760.4(CSF3R):c.1872G>A (p.Ser624=) rs145218850 0.00004
NM_000760.4(CSF3R):c.673+20G>A rs926138175 0.00004
NM_000760.4(CSF3R):c.722C>T (p.Ala241Val) rs199991273 0.00004
NM_000760.4(CSF3R):c.816G>A (p.Pro272=) rs200668866 0.00004
NM_000760.4(CSF3R):c.103A>G (p.Ile35Val) rs755370892 0.00003
NM_000760.4(CSF3R):c.1044C>T (p.Asp348=) rs766845092 0.00003
NM_000760.4(CSF3R):c.1224T>A (p.Leu408=) rs754281164 0.00003
NM_000760.4(CSF3R):c.1388G>A (p.Trp463Ter) rs374536805 0.00003
NM_000760.4(CSF3R):c.1474+15G>C rs769098766 0.00003
NM_000760.4(CSF3R):c.2069C>T (p.Thr690Met) rs764345289 0.00003
NM_000760.4(CSF3R):c.2451C>T (p.Leu817=) rs374780980 0.00003
NM_000760.4(CSF3R):c.2495C>T (p.Ala832Val) rs372972496 0.00003
NM_000760.4(CSF3R):c.456A>G (p.Leu152=) rs373296999 0.00003
NM_000760.4(CSF3R):c.486-17G>A rs377125326 0.00003
NM_000760.4(CSF3R):c.490C>T (p.Arg164Trp) rs762191036 0.00003
NM_000760.4(CSF3R):c.625C>T (p.Leu209=) rs768328227 0.00003
NM_000760.4(CSF3R):c.826G>A (p.Glu276Lys) rs201037400 0.00003
NM_000760.4(CSF3R):c.90T>C (p.Ser30=) rs376890968 0.00003
NM_000760.4(CSF3R):c.923G>A (p.Arg308His) rs148747030 0.00003
NM_000760.4(CSF3R):c.991G>A (p.Glu331Lys) rs748394788 0.00003
NM_000760.4(CSF3R):c.106G>A (p.Val36Ile) rs369635490 0.00002
NM_000760.4(CSF3R):c.1115T>A (p.Val372Glu) rs200965005 0.00002
NM_000760.4(CSF3R):c.1238C>T (p.Ser413Leu) rs1294098023 0.00002
NM_000760.4(CSF3R):c.1325C>T (p.Pro442Leu) rs948001842 0.00002
NM_000760.4(CSF3R):c.1409C>T (p.Ala470Val) rs781634406 0.00002
NM_000760.4(CSF3R):c.1633C>A (p.Leu545Met) rs760231922 0.00002
NM_000760.4(CSF3R):c.1664G>A (p.Gly555Glu) rs763022964 0.00002
NM_000760.4(CSF3R):c.1683C>T (p.His561=) rs771829515 0.00002
NM_000760.4(CSF3R):c.1711A>G (p.Asn571Asp) rs372318763 0.00002
NM_000760.4(CSF3R):c.1947T>C (p.Cys649=) rs1005321266 0.00002
NM_000760.4(CSF3R):c.195G>A (p.Leu65=) rs369091565 0.00002
NM_000760.4(CSF3R):c.2132C>T (p.Ser711Phe) rs778281149 0.00002
NM_000760.4(CSF3R):c.2251C>T (p.Leu751Phe) rs1650331500 0.00002
NM_000760.4(CSF3R):c.2360A>G (p.Tyr787Cys) rs150281231 0.00002
NM_000760.4(CSF3R):c.2405C>T (p.Thr802Ile) rs371426547 0.00002
NM_000760.4(CSF3R):c.361+12C>T rs200681728 0.00002
NM_000760.4(CSF3R):c.48C>T (p.Ile16=) rs766497159 0.00002
NM_000760.4(CSF3R):c.673+16G>A rs938091790 0.00002
NM_000760.4(CSF3R):c.698G>A (p.Arg233Gln) rs138558210 0.00002
NM_000760.4(CSF3R):c.801G>C (p.Glu267Asp) rs141083013 0.00002
NM_000760.4(CSF3R):c.843+3G>A rs373601431 0.00002
NM_000760.4(CSF3R):c.903G>A (p.Thr301=) rs746383447 0.00002
NM_000760.4(CSF3R):c.995G>A (p.Arg332Gln) rs758186406 0.00002
NM_000760.4(CSF3R):c.997G>A (p.Ala333Thr) rs750345536 0.00002
NM_000760.4(CSF3R):c.*161G>A rs772443391 0.00001
NM_000760.4(CSF3R):c.1095C>T (p.Ser365=) rs763356452 0.00001
NM_000760.4(CSF3R):c.1100G>A (p.Arg367Gln) rs140159756 0.00001
NM_000760.4(CSF3R):c.114G>A (p.Leu38=) rs765406291 0.00001
NM_000760.4(CSF3R):c.1216G>A (p.Val406Met) rs1364558879 0.00001
NM_000760.4(CSF3R):c.1243G>A (p.Gly415Arg) rs779227407 0.00001
NM_000760.4(CSF3R):c.1286-3C>T rs778391319 0.00001
NM_000760.4(CSF3R):c.1324C>G (p.Pro442Ala) rs1260196968 0.00001
NM_000760.4(CSF3R):c.1378G>A (p.Val460Met) rs758904378 0.00001
NM_000760.4(CSF3R):c.1407C>T (p.Ser469=) rs1306508815 0.00001
NM_000760.4(CSF3R):c.1456A>G (p.Thr486Ala) rs767301627 0.00001
NM_000760.4(CSF3R):c.1522T>C (p.Tyr508His) rs1180227540 0.00001
NM_000760.4(CSF3R):c.1608G>A (p.Lys536=) rs1196522809 0.00001
NM_000760.4(CSF3R):c.160C>T (p.His54Tyr) rs371768579 0.00001
NM_000760.4(CSF3R):c.1624T>C (p.Trp542Arg) rs763748002 0.00001
NM_000760.4(CSF3R):c.163C>G (p.Leu55Val) rs1651085213 0.00001
NM_000760.4(CSF3R):c.1686C>T (p.Tyr562=) rs1650461433 0.00001
NM_000760.4(CSF3R):c.170C>T (p.Pro57Leu) rs746657668 0.00001
NM_000760.4(CSF3R):c.1725C>T (p.Ser575=) rs758984105 0.00001
NM_000760.4(CSF3R):c.1728C>T (p.Ala576=) rs1451236691 0.00001
NM_000760.4(CSF3R):c.1734G>T (p.Leu578=) rs1314251171 0.00001
NM_000760.4(CSF3R):c.1757T>C (p.Val586Ala) rs1650440390 0.00001
NM_000760.4(CSF3R):c.1795C>A (p.His599Asn) rs750968883 0.00001
NM_000760.4(CSF3R):c.180G>A (p.Gln60=) rs1200828641 0.00001
NM_000760.4(CSF3R):c.1828A>C (p.Asn610His) rs1014131377 0.00001
NM_000760.4(CSF3R):c.1864+6G>A rs1374999733 0.00001
NM_000760.4(CSF3R):c.1926C>G (p.Leu642=) rs771240381 0.00001
NM_000760.4(CSF3R):c.2037G>A (p.Glu679=) rs1397528121 0.00001
NM_000760.4(CSF3R):c.2059G>A (p.Gly687Ser) rs201699446 0.00001
NM_000760.4(CSF3R):c.2106T>C (p.Asp702=) rs1650346965 0.00001
NM_000760.4(CSF3R):c.2117C>T (p.Pro706Leu) rs776535279 0.00001
NM_000760.4(CSF3R):c.2121G>A (p.Val707=) rs764603715 0.00001
NM_000760.4(CSF3R):c.2157C>T (p.Gly719=) rs768198697 0.00001
NM_000760.4(CSF3R):c.2187C>T (p.Leu729=) rs763256285 0.00001
NM_000760.4(CSF3R):c.2215C>T (p.Gln739Ter) rs1650335810 0.00001
NM_000760.4(CSF3R):c.2223A>G (p.Gln741=) rs756684252 0.00001
NM_000760.4(CSF3R):c.2237C>T (p.Thr746Ile) rs1382959301 0.00001
NM_000760.4(CSF3R):c.2241C>T (p.Ser747=) rs372773604 0.00001
NM_000760.4(CSF3R):c.2257G>A (p.Gly753Arg) rs1375728977 0.00001
NM_000760.4(CSF3R):c.230G>A (p.Arg77His) rs761404285 0.00001
NM_000760.4(CSF3R):c.2428G>A (p.Asp810Asn) rs567871402 0.00001
NM_000760.4(CSF3R):c.2477G>A (p.Arg826Gln) rs1332794856 0.00001
NM_000760.4(CSF3R):c.322A>G (p.Ser108Gly) rs149231790 0.00001
NM_000760.4(CSF3R):c.325C>A (p.Leu109Met) rs147091245 0.00001
NM_000760.4(CSF3R):c.340C>T (p.Gln114Ter) rs756667927 0.00001
NM_000760.4(CSF3R):c.40C>G (p.Leu14Val) rs752051152 0.00001
NM_000760.4(CSF3R):c.437C>T (p.Pro146Leu) rs1455346222 0.00001
NM_000760.4(CSF3R):c.461C>T (p.Thr154Ile) rs1483194095 0.00001
NM_000760.4(CSF3R):c.485+19C>T rs1383387694 0.00001
NM_000760.4(CSF3R):c.491G>A (p.Arg164Gln) rs754336092 0.00001
NM_000760.4(CSF3R):c.558C>T (p.Cys186=) rs575622000 0.00001
NM_000760.4(CSF3R):c.623C>T (p.Ala208Val) rs372288734 0.00001
NM_000760.4(CSF3R):c.64+7del rs750628335 0.00001
NM_000760.4(CSF3R):c.663C>T (p.Pro221=) rs1420508617 0.00001
NM_000760.4(CSF3R):c.686C>A (p.Pro229His) rs764202764 0.00001
NM_000760.4(CSF3R):c.782A>G (p.His261Arg) rs1650841565 0.00001
NM_000760.4(CSF3R):c.78C>T (p.Cys26=) rs767458386 0.00001
NM_000760.4(CSF3R):c.799del (p.Glu267fs) rs759302795 0.00001
NM_000760.4(CSF3R):c.79G>A (p.Gly27Arg) rs759364352 0.00001
NM_000760.4(CSF3R):c.964A>G (p.Ser322Gly) rs376634675 0.00001
NM_000760.4(CSF3R):c.971G>A (p.Ser324Asn) rs772453466 0.00001
NM_000760.4(CSF3R):c.994C>T (p.Arg332Trp) rs112400536 0.00001
NC_000001.10:g.(?_36940958)_(36941294_?)del
NM_000760.4(CSF3R):c.1003del (p.Thr335fs)
NM_000760.4(CSF3R):c.1012C>T (p.Leu338=)
NM_000760.4(CSF3R):c.1018A>G (p.Thr340Ala) rs1650787609
NM_000760.4(CSF3R):c.1037A>C (p.Gln346Pro) rs3917974
NM_000760.4(CSF3R):c.1044C>A (p.Asp348Glu) rs766845092
NM_000760.4(CSF3R):c.105C>T (p.Ile35=) rs3917954
NM_000760.4(CSF3R):c.1071+13G>A rs1470411346
NM_000760.4(CSF3R):c.1071+1_1071+5dup rs770568094
NM_000760.4(CSF3R):c.1072-10T>C rs1557592278
NM_000760.4(CSF3R):c.1072-14C>G
NM_000760.4(CSF3R):c.1072-18T>C
NM_000760.4(CSF3R):c.1072-1G>A
NM_000760.4(CSF3R):c.1072-1G>C rs992318824
NM_000760.4(CSF3R):c.1072-3C>T
NM_000760.4(CSF3R):c.1072-8C>A rs2124119433
NM_000760.4(CSF3R):c.1072-9G>A rs1650746294
NM_000760.4(CSF3R):c.1078C>T (p.Pro360Ser) rs751225562
NM_000760.4(CSF3R):c.1083G>A (p.Leu361=)
NM_000760.4(CSF3R):c.1095C>A (p.Ser365Arg)
NM_000760.4(CSF3R):c.1099C>T (p.Arg367Trp)
NM_000760.4(CSF3R):c.1101G>A (p.Arg367=)
NM_000760.4(CSF3R):c.1103T>C (p.Ile368Thr) rs1650741888
NM_000760.4(CSF3R):c.1105C>T (p.Gln369Ter)
NM_000760.4(CSF3R):c.1116G>C (p.Val372=)
NM_000760.4(CSF3R):c.1117G>C (p.Val373Leu)
NM_000760.4(CSF3R):c.1119T>A (p.Val373=)
NM_000760.4(CSF3R):c.1129C>T (p.Pro377Ser)
NM_000760.4(CSF3R):c.1140G>C (p.Gln380His)
NM_000760.4(CSF3R):c.1144G>A (p.Gly382Arg)
NM_000760.4(CSF3R):c.1156C>T (p.Pro386Ser) rs1650737288
NM_000760.4(CSF3R):c.1176G>A (p.Glu392=)
NM_000760.4(CSF3R):c.1178T>C (p.Leu393Pro) rs1163985254
NM_000760.4(CSF3R):c.1182C>G (p.Ser394Arg)
NM_000760.4(CSF3R):c.1197G>A (p.Leu399=) rs898927823
NM_000760.4(CSF3R):c.1212G>A (p.Gln404=) rs559429248
NM_000760.4(CSF3R):c.1216dup (p.Val406fs) rs890101650
NM_000760.4(CSF3R):c.1222C>T (p.Leu408Phe)
NM_000760.4(CSF3R):c.1233_1234dup (p.Asn412fs)
NM_000760.4(CSF3R):c.1245G>C (p.Gly415=)
NM_000760.4(CSF3R):c.1245del (p.Thr416fs) rs606231474
NM_000760.4(CSF3R):c.1249T>A (p.Ser417Thr)
NM_000760.4(CSF3R):c.1253_1254inv (p.Arg418His)
NM_000760.4(CSF3R):c.1258A>G (p.Thr420Ala)
NM_000760.4(CSF3R):c.1262C>T (p.Pro421Leu)
NM_000760.4(CSF3R):c.1266G>A (p.Val422=) rs746450541
NM_000760.4(CSF3R):c.126C>A (p.Ile42=)
NM_000760.4(CSF3R):c.1272C>G (p.Phe424Leu)
NM_000760.4(CSF3R):c.1285+17G>T
NM_000760.4(CSF3R):c.1285+3A>G
NM_000760.4(CSF3R):c.1285G>A (p.Gly429Ser) rs1650719908
NM_000760.4(CSF3R):c.1286-4C>T rs1570583247
NM_000760.4(CSF3R):c.1292C>T (p.Ala431Val)
NM_000760.4(CSF3R):c.1297A>T (p.Thr433Ser)
NM_000760.4(CSF3R):c.1307A>T (p.His436Leu) rs749559806
NM_000760.4(CSF3R):c.1324C>T (p.Pro442Ser) rs1260196968
NM_000760.4(CSF3R):c.1346G>T (p.Trp449Leu)
NM_000760.4(CSF3R):c.1348G>A (p.Glu450Lys) rs766441662
NM_000760.4(CSF3R):c.1348_1349delinsAT (p.Glu450Met)
NM_000760.4(CSF3R):c.1351C>T (p.Pro451Ser) rs139862991
NM_000760.4(CSF3R):c.1356C>T (p.Pro452=) rs2124111294
NM_000760.4(CSF3R):c.1361C>T (p.Pro454Leu)
NM_000760.4(CSF3R):c.1372G>C (p.Gly458Arg) rs2124111042
NM_000760.4(CSF3R):c.1377T>C (p.Tyr459=) rs367641463
NM_000760.4(CSF3R):c.137_138delinsTT (p.Cys46Phe)
NM_000760.4(CSF3R):c.1384G>C (p.Glu462Gln)
NM_000760.4(CSF3R):c.1399C>A (p.Pro467Thr)
NM_000760.4(CSF3R):c.1399C>G (p.Pro467Ala) rs538923210
NM_000760.4(CSF3R):c.1399C>T (p.Pro467Ser) rs538923210
NM_000760.4(CSF3R):c.1404del (p.Ser469fs) rs747437399
NM_000760.4(CSF3R):c.1406G>T (p.Ser469Ile)
NM_000760.4(CSF3R):c.1412_1413delinsAA (p.Ser471Lys) rs2124110365
NM_000760.4(CSF3R):c.1429T>C (p.Trp477Arg) rs879052375
NM_000760.4(CSF3R):c.1474+16A>G
NM_000760.4(CSF3R):c.1474+19G>T rs747544404
NM_000760.4(CSF3R):c.1474+3G>A rs2124109417
NM_000760.4(CSF3R):c.1475-3C>A
NM_000760.4(CSF3R):c.1488del (p.Gln498fs)
NM_000760.4(CSF3R):c.14G>C (p.Gly5Ala)
NM_000760.4(CSF3R):c.1503G>C (p.Glu501Asp)
NM_000760.4(CSF3R):c.1506C>T (p.Ile502=)
NM_000760.4(CSF3R):c.1512G>A (p.Val504=) rs1650544652
NM_000760.4(CSF3R):c.1518C>T (p.Pro506=)
NM_000760.4(CSF3R):c.1525C>T (p.Gln509Ter) rs1236469336
NM_000760.4(CSF3R):c.1530C>T (p.Asp510=)
NM_000760.4(CSF3R):c.1531A>G (p.Thr511Ala) rs2124107417
NM_000760.4(CSF3R):c.153C>A (p.Asn51Lys)
NM_000760.4(CSF3R):c.153C>T (p.Asn51=)
NM_000760.4(CSF3R):c.1548G>A (p.Gln516=)
NM_000760.4(CSF3R):c.1558_1559delinsAA (p.Ala520Asn)
NM_000760.4(CSF3R):c.1569A>T (p.Gln523His)
NM_000760.4(CSF3R):c.1575G>A (p.Met525Ile)
NM_000760.4(CSF3R):c.1576+11T>C
NM_000760.4(CSF3R):c.1577-1G>A
NM_000760.4(CSF3R):c.1577-20G>A
NM_000760.4(CSF3R):c.1587T>C (p.His529=) rs778419529
NM_000760.4(CSF3R):c.1605A>G (p.Leu535=)
NM_000760.4(CSF3R):c.1608G>C (p.Lys536Asn) rs1196522809
NM_000760.4(CSF3R):c.160C>G (p.His54Asp) rs371768579
NM_000760.4(CSF3R):c.1612A>G (p.Ile538Val) rs375571657
NM_000760.4(CSF3R):c.1630C>G (p.Gln544Glu)
NM_000760.4(CSF3R):c.1646C>A (p.Pro549His) rs1650466012
NM_000760.4(CSF3R):c.1667A>G (p.Lys556Arg)
NM_000760.4(CSF3R):c.1670G>A (p.Ser557Asn)
NM_000760.4(CSF3R):c.1672C>T (p.Pro558Ser)
NM_000760.4(CSF3R):c.1681C>G (p.His561Asp) rs1198283969
NM_000760.4(CSF3R):c.168C>T (p.Asp56=)
NM_000760.4(CSF3R):c.1723+13T>G
NM_000760.4(CSF3R):c.1723+19C>T
NM_000760.4(CSF3R):c.1723T>C (p.Ser575Pro)
NM_000760.4(CSF3R):c.1724-10C>A
NM_000760.4(CSF3R):c.1724-6T>G rs1217235164
NM_000760.4(CSF3R):c.1724-7C>T
NM_000760.4(CSF3R):c.1724-9C>T
NM_000760.4(CSF3R):c.1751G>A (p.Gly584Asp)
NM_000760.4(CSF3R):c.1764T>C (p.His588=)
NM_000760.4(CSF3R):c.1765G>A (p.Gly589Ser)
NM_000760.4(CSF3R):c.1771G>A (p.Glu591Lys)
NM_000760.4(CSF3R):c.1772A>C (p.Glu591Ala)
NM_000760.4(CSF3R):c.1773G>A (p.Glu591=) rs2124102034
NM_000760.4(CSF3R):c.1776C>T (p.Pro592=)
NM_000760.4(CSF3R):c.1777G>A (p.Ala593Thr)
NM_000760.4(CSF3R):c.1785_1786del (p.Tyr596fs) rs1557587773
NM_000760.4(CSF3R):c.1793T>C (p.Ile598Thr)
NM_000760.4(CSF3R):c.1807G>T (p.Ala603Ser)
NM_000760.4(CSF3R):c.1829A>T (p.Asn610Ile) rs764132853
NM_000760.4(CSF3R):c.1842C>T (p.Leu614=)
NM_000760.4(CSF3R):c.1853C>T (p.Thr618Ile) rs796065343
NM_000760.4(CSF3R):c.1864+17G>A
NM_000760.4(CSF3R):c.1864+7G>T rs1375923168
NM_000760.4(CSF3R):c.1865-16C>A
NM_000760.4(CSF3R):c.1865-19G>A
NM_000760.4(CSF3R):c.1865-19G>C
NM_000760.4(CSF3R):c.1865-20C>T rs375651066
NM_000760.4(CSF3R):c.1865-4G>A
NM_000760.4(CSF3R):c.1869G>T (p.Gly623=)
NM_000760.4(CSF3R):c.1883T>A (p.Ile628Asn) rs1334552669
NM_000760.4(CSF3R):c.1899C>T (p.Phe633=)
NM_000760.4(CSF3R):c.1912_1914dup (p.Leu639_Thr640insLeu)
NM_000760.4(CSF3R):c.1928G>A (p.Cys643Tyr)
NM_000760.4(CSF3R):c.1936G>A (p.Ala646Thr)
NM_000760.4(CSF3R):c.1958+18A>G rs755191694
NM_000760.4(CSF3R):c.1958+19C>T
NM_000760.4(CSF3R):c.1958+20C>G
NM_000760.4(CSF3R):c.1959-4C>G
NM_000760.4(CSF3R):c.1959-6C>T
NM_000760.4(CSF3R):c.198A>T (p.Gly66=)
NM_000760.4(CSF3R):c.2028A>C (p.Thr676=)
NM_000760.4(CSF3R):c.2029A>G (p.Ile677Val)
NM_000760.4(CSF3R):c.2038G>A (p.Glu680Lys)
NM_000760.4(CSF3R):c.2039_2040del (p.Glu680fs) rs1420932797
NM_000760.4(CSF3R):c.203A>G (p.Glu68Gly) rs2124136821
NM_000760.4(CSF3R):c.203_221del (p.Glu68fs) rs757401069
NM_000760.4(CSF3R):c.2040+13G>A
NM_000760.4(CSF3R):c.2040+15G>A
NM_000760.4(CSF3R):c.2040+4A>G
NM_000760.4(CSF3R):c.204G>A (p.Glu68=)
NM_000760.4(CSF3R):c.2070G>A (p.Thr690=)
NM_000760.4(CSF3R):c.2074C>T (p.Pro692Ser)
NM_000760.4(CSF3R):c.2086C>T (p.Leu696Phe)
NM_000760.4(CSF3R):c.2094G>C (p.Val698=)
NM_000760.4(CSF3R):c.2112G>T (p.Lys704Asn)
NM_000760.4(CSF3R):c.2115G>A (p.Lys705=)
NM_000760.4(CSF3R):c.2118G>T (p.Pro706=)
NM_000760.4(CSF3R):c.2123C>T (p.Pro708Leu)
NM_000760.4(CSF3R):c.2130G>C (p.Glu710Asp) rs370491074
NM_000760.4(CSF3R):c.213C>T (p.Pro71=)
NM_000760.4(CSF3R):c.214G>A (p.Gly72Arg) rs375879178
NM_000760.4(CSF3R):c.214G>T (p.Gly72Trp) rs375879178
NM_000760.4(CSF3R):c.2153G>T (p.Cys718Phe)
NM_000760.4(CSF3R):c.2156_2187dup (p.Gln730fs)
NM_000760.4(CSF3R):c.2160C>T (p.Leu720=)
NM_000760.4(CSF3R):c.2163C>G (p.Pro721=) rs538096821
NM_000760.4(CSF3R):c.2164A>G (p.Thr722Ala) rs2124096799
NM_000760.4(CSF3R):c.217G>A (p.Gly73Ser)
NM_000760.4(CSF3R):c.218dup (p.Arg74fs) rs765536522
NM_000760.4(CSF3R):c.2213C>A (p.Thr738Asn)
NM_000760.4(CSF3R):c.2227C>T (p.Gln743Ter)
NM_000760.4(CSF3R):c.2231C>T (p.Ser744Phe) rs1296151274
NM_000760.4(CSF3R):c.2235C>G (p.Gly745=)
NM_000760.4(CSF3R):c.2245C>T (p.Gln749Ter) rs1650332196
NM_000760.4(CSF3R):c.2270G>C (p.Gly757Ala)
NM_000760.4(CSF3R):c.2279C>A (p.Thr760Lys) rs1436771935
NM_000760.4(CSF3R):c.2280A>G (p.Thr760=)
NM_000760.4(CSF3R):c.2289G>A (p.Gly763=) rs1481867581
NM_000760.4(CSF3R):c.2293G>A (p.Gly765Arg) rs2124096083
NM_000760.4(CSF3R):c.229C>T (p.Arg77Cys) rs2124136605
NM_000760.4(CSF3R):c.2305C>T (p.Arg769Cys)
NM_000760.4(CSF3R):c.2306G>A (p.Arg769His)
NM_000760.4(CSF3R):c.2306G>T (p.Arg769Leu)
NM_000760.4(CSF3R):c.2315C>G (p.Ser772Cys)
NM_000760.4(CSF3R):c.2325C>T (p.Pro775=) rs138866886
NM_000760.4(CSF3R):c.2333C>A (p.Ala778Glu)
NM_000760.4(CSF3R):c.2349C>T (p.Ser783=)
NM_000760.4(CSF3R):c.2358C>T (p.Ser786=)
NM_000760.4(CSF3R):c.235T>C (p.Ser79Pro)
NM_000760.4(CSF3R):c.2367C>T (p.Asn789=) rs946096806
NM_000760.4(CSF3R):c.2381C>T (p.Ala794Val) rs1183274433
NM_000760.4(CSF3R):c.2389T>C (p.Leu797=) rs1557585422
NM_000760.4(CSF3R):c.238G>T (p.Asp80Tyr) rs1207837094
NM_000760.4(CSF3R):c.2403A>G (p.Val801=) rs2124095601
NM_000760.4(CSF3R):c.2417G>C (p.Ser806Thr) rs927190839
NM_000760.4(CSF3R):c.2420A>G (p.Gln807Arg)
NM_000760.4(CSF3R):c.2423A>G (p.Glu808Gly)
NM_000760.4(CSF3R):c.2429A>G (p.Asp810Gly)
NM_000760.4(CSF3R):c.2441G>A (p.Gly814Glu)
NM_000760.4(CSF3R):c.2450T>C (p.Leu817Pro)
NM_000760.4(CSF3R):c.2454C>T (p.Asn818=) rs1650313816
NM_000760.4(CSF3R):c.2455T>A (p.Phe819Ile)
NM_000760.4(CSF3R):c.2476C>T (p.Arg826Trp)
NM_000760.4(CSF3R):c.2483A>G (p.His828Arg) rs1272584212
NM_000760.4(CSF3R):c.2494_2495delinsAA (p.Ala832Lys) rs2124095140
NM_000760.4(CSF3R):c.2495C>A (p.Ala832Glu)
NM_000760.4(CSF3R):c.263C>A (p.Thr88Asn)
NM_000760.4(CSF3R):c.263C>T (p.Thr88Ile)
NM_000760.4(CSF3R):c.270C>T (p.Pro90=)
NM_000760.4(CSF3R):c.273C>T (p.His91=)
NM_000760.4(CSF3R):c.274C>G (p.Leu92Val) rs1434762753
NM_000760.4(CSF3R):c.274C>T (p.Leu92Phe)
NM_000760.4(CSF3R):c.28_51del (p.Thr10_Leu17del) rs1463924000
NM_000760.4(CSF3R):c.296_299del (p.Leu99fs)
NM_000760.4(CSF3R):c.29C>T (p.Thr10Ile)
NM_000760.4(CSF3R):c.312C>A (p.Asn104Lys) rs750132507
NM_000760.4(CSF3R):c.324C>T (p.Ser108=) rs2124136036
NM_000760.4(CSF3R):c.326T>C (p.Leu109Pro) rs1290014200
NM_000760.4(CSF3R):c.32G>A (p.Trp11Ter) rs2124152665
NM_000760.4(CSF3R):c.344T>G (p.Val115Gly) rs139022075
NM_000760.4(CSF3R):c.354C>T (p.Arg118=)
NM_000760.4(CSF3R):c.355G>T (p.Ala119Ser)
NM_000760.4(CSF3R):c.361+15C>T
NM_000760.4(CSF3R):c.362-27_362-18del
NM_000760.4(CSF3R):c.366T>G (p.Pro122=) rs201313973
NM_000760.4(CSF3R):c.381C>A (p.His127Gln) rs1348822018
NM_000760.4(CSF3R):c.420C>T (p.Leu140=) rs1650945872
NM_000760.4(CSF3R):c.425G>T (p.Cys142Phe) rs2124129472
NM_000760.4(CSF3R):c.429G>T (p.Gln143His) rs766974881
NM_000760.4(CSF3R):c.435G>A (p.Glu145=)
NM_000760.4(CSF3R):c.445G>A (p.Glu149Lys) rs2124129371
NM_000760.4(CSF3R):c.463A>G (p.Ser155Gly)
NM_000760.4(CSF3R):c.464G>C (p.Ser155Thr)
NM_000760.4(CSF3R):c.484A>C (p.Lys162Gln)
NM_000760.4(CSF3R):c.485+13C>T rs2124129153
NM_000760.4(CSF3R):c.485+18C>T rs1421627142
NM_000760.4(CSF3R):c.485+6G>C
NM_000760.4(CSF3R):c.485+8G>A
NM_000760.4(CSF3R):c.486-5G>A
NM_000760.4(CSF3R):c.505A>T (p.Thr169Ser) rs1650924939
NM_000760.4(CSF3R):c.506C>G (p.Thr169Ser)
NM_000760.4(CSF3R):c.522C>T (p.Ile174=)
NM_000760.4(CSF3R):c.532G>A (p.Val178Met) rs186379741
NM_000760.4(CSF3R):c.538A>C (p.Lys180Gln) rs1557595050
NM_000760.4(CSF3R):c.544G>A (p.Gly182Arg)
NM_000760.4(CSF3R):c.555C>G (p.His185Gln)
NM_000760.4(CSF3R):c.559T>G (p.Cys187Gly)
NM_000760.4(CSF3R):c.569G>A (p.Arg190His)
NM_000760.4(CSF3R):c.576C>A (p.His192Gln)
NM_000760.4(CSF3R):c.57C>T (p.Leu19=)
NM_000760.4(CSF3R):c.581T>C (p.Leu194Pro)
NM_000760.4(CSF3R):c.612G>A (p.Gln204=)
NM_000760.4(CSF3R):c.617A>G (p.Glu206Gly)
NM_000760.4(CSF3R):c.618G>A (p.Glu206=) rs113122356
NM_000760.4(CSF3R):c.622G>A (p.Ala208Thr)
NM_000760.4(CSF3R):c.623C>A (p.Ala208Glu)
NM_000760.4(CSF3R):c.624G>A (p.Ala208=)
NM_000760.4(CSF3R):c.62G>C (p.Gly21Ala) rs2124152542
NM_000760.4(CSF3R):c.634A>G (p.Ser212Gly)
NM_000760.4(CSF3R):c.64+3G>A
NM_000760.4(CSF3R):c.642_650delinsTTGATCCCATGGATGTTGGTGTCTTGATCCCATGGATGTTG (p.Pro215_Leu217delinsTer) rs2124127693
NM_000760.4(CSF3R):c.65-1G>A
NM_000760.4(CSF3R):c.65-2A>C
NM_000760.4(CSF3R):c.65-6C>A
NM_000760.4(CSF3R):c.65-8C>T rs1322634596
NM_000760.4(CSF3R):c.664A>G (p.Met222Val) rs1650909656
NM_000760.4(CSF3R):c.665T>C (p.Met222Thr)
NM_000760.4(CSF3R):c.673+12A>G
NM_000760.4(CSF3R):c.673+15G>A
NM_000760.4(CSF3R):c.673+4G>A
NM_000760.4(CSF3R):c.674-10C>T
NM_000760.4(CSF3R):c.674-15C>T
NM_000760.4(CSF3R):c.679C>T (p.Leu227=)
NM_000760.4(CSF3R):c.685C>T (p.Pro229Ser)
NM_000760.4(CSF3R):c.689C>T (p.Pro230Leu)
NM_000760.4(CSF3R):c.690dup (p.Met231fs)
NM_000760.4(CSF3R):c.693G>A (p.Met231Ile) rs1468169521
NM_000760.4(CSF3R):c.693G>T (p.Met231Ile) rs1468169521
NM_000760.4(CSF3R):c.697C>T (p.Arg233Trp)
NM_000760.4(CSF3R):c.705G>A (p.Met235Ile)
NM_000760.4(CSF3R):c.713G>A (p.Ser238Asn)
NM_000760.4(CSF3R):c.723G>A (p.Ala241=) rs202080839
NM_000760.4(CSF3R):c.734A>T (p.Gln245Leu)
NM_000760.4(CSF3R):c.739G>C (p.Gly247Arg) rs1216927796
NM_000760.4(CSF3R):c.740G>C (p.Gly247Ala)
NM_000760.4(CSF3R):c.757T>G (p.Trp253Gly) rs2124124183
NM_000760.4(CSF3R):c.762G>A (p.Glu254=)
NM_000760.4(CSF3R):c.769C>T (p.Gln257Ter)
NM_000760.4(CSF3R):c.787A>C (p.Asn263His) rs2124124079
NM_000760.4(CSF3R):c.78C>A (p.Cys26Ter) rs767458386
NM_000760.4(CSF3R):c.799G>A (p.Glu267Lys)
NM_000760.4(CSF3R):c.800A>T (p.Glu267Val) rs758364103
NM_000760.4(CSF3R):c.805C>T (p.Arg269Cys) rs2124123972
NM_000760.4(CSF3R):c.806G>A (p.Arg269His)
NM_000760.4(CSF3R):c.815C>A (p.Pro272Gln) rs367774391
NM_000760.4(CSF3R):c.821G>A (p.Arg274His)
NM_000760.4(CSF3R):c.836G>A (p.Trp279Ter) rs1650834725
NM_000760.4(CSF3R):c.839C>T (p.Ala280Val)
NM_000760.4(CSF3R):c.841C>T (p.Leu281=)
NM_000760.4(CSF3R):c.843+19T>A
NM_000760.4(CSF3R):c.843+19T>C
NM_000760.4(CSF3R):c.843+2T>C rs1650834071
NM_000760.4(CSF3R):c.843+9G>A
NM_000760.4(CSF3R):c.844-8C>G rs200218331
NM_000760.4(CSF3R):c.845T>A (p.Val282Glu)
NM_000760.4(CSF3R):c.873G>A (p.Gln291=)
NM_000760.4(CSF3R):c.886G>A (p.Gly296Arg)
NM_000760.4(CSF3R):c.886G>C (p.Gly296Arg)
NM_000760.4(CSF3R):c.891C>T (p.Leu297=)
NM_000760.4(CSF3R):c.896C>T (p.Pro299Leu) rs1489427982
NM_000760.4(CSF3R):c.911C>A (p.Thr304Asn) rs201991840
NM_000760.4(CSF3R):c.911C>G (p.Thr304Ser) rs201991840
NM_000760.4(CSF3R):c.913C>G (p.Leu305Val)
NM_000760.4(CSF3R):c.918G>A (p.Gln306=)
NM_000760.4(CSF3R):c.922C>T (p.Arg308Cys) rs606231473
NM_000760.4(CSF3R):c.927C>T (p.Cys309=) rs1570588349
NM_000760.4(CSF3R):c.931C>T (p.Arg311Cys)
NM_000760.4(CSF3R):c.932G>A (p.Arg311His)
NM_000760.4(CSF3R):c.934T>C (p.Trp312Arg)
NM_000760.4(CSF3R):c.935_963del (p.Arg311_Trp312insTer) rs1570588220
NM_000760.4(CSF3R):c.937C>T (p.Pro313Ser) rs1426986770
NM_000760.4(CSF3R):c.939C>G (p.Pro313=)
NM_000760.4(CSF3R):c.948_963del (p.His317fs) rs606231475
NM_000760.4(CSF3R):c.957C>T (p.Ser319=)
NM_000760.4(CSF3R):c.964A>T (p.Ser322Cys)
NM_000760.4(CSF3R):c.967C>T (p.Pro323Ser) rs1570588198
NM_000760.4(CSF3R):c.973C>G (p.Leu325Val) rs559114400
NM_000760.4(CSF3R):c.987T>G (p.Thr329=)
NM_000760.4(CSF3R):c.98C>A (p.Ala33Asp)
NM_000760.4(CSF3R):c.990C>T (p.Thr330=)
NM_000760.4(CSF3R):c.995G>C (p.Arg332Pro)
NM_000760.4(CSF3R):c.997+13T>A
NM_000760.4(CSF3R):c.997+13T>C
NM_000760.4(CSF3R):c.998-18_998-17dup
NM_000760.4(CSF3R):c.998-19C>T rs2124121672
NM_000760.4(CSF3R):c.998-1G>A rs1248511242
NM_000760.4(CSF3R):c.998-2A>T rs879253750
NM_000760.4(CSF3R):c.99C>A (p.Ala33=) rs1557597747

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