ClinVar Miner

List of variants reported as likely benign for autosomal recessive severe congenital neutropenia due to CSF3R deficiency by Invitae

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 191
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HGVS dbSNP gnomAD frequency
NM_000760.4(CSF3R):c.2407C>T (p.Pro803Ser) rs35622214 0.00185
NM_000760.4(CSF3R):c.1748G>A (p.Arg583His) rs148104401 0.00158
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.1856T>C (p.Leu619Ser) rs141619366 0.00115
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.765A>T (p.Pro255=) rs145439244 0.00023
NM_000760.4(CSF3R):c.855C>T (p.Leu285=) rs150784508 0.00019
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.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.1704C>T (p.Asn568=) rs373727880 0.00012
NM_000760.4(CSF3R):c.1242C>T (p.Ala414=) rs146435131 0.00010
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.1185C>T (p.Cys395=) rs184980728 0.00008
NM_000760.4(CSF3R):c.1724-15G>A rs371706347 0.00008
NM_000760.4(CSF3R):c.885C>T (p.Cys295=) rs747273831 0.00008
NM_000760.4(CSF3R):c.2118G>A (p.Pro706=) rs776938018 0.00007
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.234G>A (p.Leu78=) rs768137002 0.00006
NM_000760.4(CSF3R):c.60C>T (p.Pro20=) rs773341373 0.00006
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.1680C>G (p.Thr560=) rs748313890 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.816G>A (p.Pro272=) rs200668866 0.00004
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.1474+15G>C rs769098766 0.00003
NM_000760.4(CSF3R):c.2451C>T (p.Leu817=) rs374780980 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.625C>T (p.Leu209=) rs768328227 0.00003
NM_000760.4(CSF3R):c.90T>C (p.Ser30=) rs376890968 0.00003
NM_000760.4(CSF3R):c.1683C>T (p.His561=) rs771829515 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.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.903G>A (p.Thr301=) rs746383447 0.00002
NM_000760.4(CSF3R):c.1095C>T (p.Ser365=) rs763356452 0.00001
NM_000760.4(CSF3R):c.114G>A (p.Leu38=) rs765406291 0.00001
NM_000760.4(CSF3R):c.1407C>T (p.Ser469=) rs1306508815 0.00001
NM_000760.4(CSF3R):c.1608G>A (p.Lys536=) rs1196522809 0.00001
NM_000760.4(CSF3R):c.1686C>T (p.Tyr562=) rs1650461433 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.180G>A (p.Gln60=) rs1200828641 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.2106T>C (p.Asp702=) rs1650346965 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.2223A>G (p.Gln741=) rs756684252 0.00001
NM_000760.4(CSF3R):c.2241C>T (p.Ser747=) rs372773604 0.00001
NM_000760.4(CSF3R):c.485+19C>T rs1383387694 0.00001
NM_000760.4(CSF3R):c.558C>T (p.Cys186=) rs575622000 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.78C>T (p.Cys26=) rs767458386 0.00001
NM_000760.4(CSF3R):c.1012C>T (p.Leu338=)
NM_000760.4(CSF3R):c.105C>T (p.Ile35=) rs3917954
NM_000760.4(CSF3R):c.1071+13G>A rs1470411346
NM_000760.4(CSF3R):c.1072-14C>G
NM_000760.4(CSF3R):c.1072-18T>C
NM_000760.4(CSF3R):c.1072-8C>A rs2124119433
NM_000760.4(CSF3R):c.1072-9G>A rs1650746294
NM_000760.4(CSF3R):c.1083G>A (p.Leu361=)
NM_000760.4(CSF3R):c.1101G>A (p.Arg367=)
NM_000760.4(CSF3R):c.1116G>C (p.Val372=)
NM_000760.4(CSF3R):c.1119T>A (p.Val373=)
NM_000760.4(CSF3R):c.1176G>A (p.Glu392=)
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.1245G>C (p.Gly415=)
NM_000760.4(CSF3R):c.1262C>T (p.Pro421Leu)
NM_000760.4(CSF3R):c.126C>A (p.Ile42=)
NM_000760.4(CSF3R):c.1285+17G>T
NM_000760.4(CSF3R):c.1286-4C>T rs1570583247
NM_000760.4(CSF3R):c.1356C>T (p.Pro452=) rs2124111294
NM_000760.4(CSF3R):c.1377T>C (p.Tyr459=) rs367641463
NM_000760.4(CSF3R):c.1474+16A>G
NM_000760.4(CSF3R):c.1474+19G>T rs747544404
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.1530C>T (p.Asp510=)
NM_000760.4(CSF3R):c.153C>T (p.Asn51=)
NM_000760.4(CSF3R):c.1548G>A (p.Gln516=)
NM_000760.4(CSF3R):c.1576+11T>C
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.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.1724-10C>A
NM_000760.4(CSF3R):c.1724-7C>T
NM_000760.4(CSF3R):c.1724-9C>T
NM_000760.4(CSF3R):c.1764T>C (p.His588=)
NM_000760.4(CSF3R):c.1773G>A (p.Glu591=) rs2124102034
NM_000760.4(CSF3R):c.1776C>T (p.Pro592=)
NM_000760.4(CSF3R):c.1842C>T (p.Leu614=)
NM_000760.4(CSF3R):c.1864+17G>A
NM_000760.4(CSF3R):c.1865-16C>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.1899C>T (p.Phe633=)
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.1959-6C>T
NM_000760.4(CSF3R):c.198A>T (p.Gly66=)
NM_000760.4(CSF3R):c.2028A>C (p.Thr676=)
NM_000760.4(CSF3R):c.2040+13G>A
NM_000760.4(CSF3R):c.2040+15G>A
NM_000760.4(CSF3R):c.204G>A (p.Glu68=)
NM_000760.4(CSF3R):c.2070G>A (p.Thr690=)
NM_000760.4(CSF3R):c.2094G>C (p.Val698=)
NM_000760.4(CSF3R):c.2115G>A (p.Lys705=)
NM_000760.4(CSF3R):c.2118G>T (p.Pro706=)
NM_000760.4(CSF3R):c.213C>T (p.Pro71=)
NM_000760.4(CSF3R):c.2160C>T (p.Leu720=)
NM_000760.4(CSF3R):c.2163C>G (p.Pro721=) rs538096821
NM_000760.4(CSF3R):c.2235C>G (p.Gly745=)
NM_000760.4(CSF3R):c.2280A>G (p.Thr760=)
NM_000760.4(CSF3R):c.2289G>A (p.Gly763=) rs1481867581
NM_000760.4(CSF3R):c.2325C>T (p.Pro775=) rs138866886
NM_000760.4(CSF3R):c.2349C>T (p.Ser783=)
NM_000760.4(CSF3R):c.2358C>T (p.Ser786=)
NM_000760.4(CSF3R):c.2367C>T (p.Asn789=) rs946096806
NM_000760.4(CSF3R):c.2389T>C (p.Leu797=) rs1557585422
NM_000760.4(CSF3R):c.2403A>G (p.Val801=) rs2124095601
NM_000760.4(CSF3R):c.2454C>T (p.Asn818=) rs1650313816
NM_000760.4(CSF3R):c.270C>T (p.Pro90=)
NM_000760.4(CSF3R):c.273C>T (p.His91=)
NM_000760.4(CSF3R):c.324C>T (p.Ser108=) rs2124136036
NM_000760.4(CSF3R):c.354C>T (p.Arg118=)
NM_000760.4(CSF3R):c.361+15C>T
NM_000760.4(CSF3R):c.366T>G (p.Pro122=) rs201313973
NM_000760.4(CSF3R):c.420C>T (p.Leu140=) rs1650945872
NM_000760.4(CSF3R):c.435G>A (p.Glu145=)
NM_000760.4(CSF3R):c.485+13C>T rs2124129153
NM_000760.4(CSF3R):c.485+18C>T rs1421627142
NM_000760.4(CSF3R):c.485+8G>A
NM_000760.4(CSF3R):c.522C>T (p.Ile174=)
NM_000760.4(CSF3R):c.57C>T (p.Leu19=)
NM_000760.4(CSF3R):c.612G>A (p.Gln204=)
NM_000760.4(CSF3R):c.618G>A (p.Glu206=) rs113122356
NM_000760.4(CSF3R):c.624G>A (p.Ala208=)
NM_000760.4(CSF3R):c.65-6C>A
NM_000760.4(CSF3R):c.65-8C>T rs1322634596
NM_000760.4(CSF3R):c.673+12A>G
NM_000760.4(CSF3R):c.673+15G>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.723G>A (p.Ala241=) rs202080839
NM_000760.4(CSF3R):c.762G>A (p.Glu254=)
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+9G>A
NM_000760.4(CSF3R):c.844-8C>G rs200218331
NM_000760.4(CSF3R):c.873G>A (p.Gln291=)
NM_000760.4(CSF3R):c.891C>T (p.Leu297=)
NM_000760.4(CSF3R):c.918G>A (p.Gln306=)
NM_000760.4(CSF3R):c.927C>T (p.Cys309=) rs1570588349
NM_000760.4(CSF3R):c.939C>G (p.Pro313=)
NM_000760.4(CSF3R):c.957C>T (p.Ser319=)
NM_000760.4(CSF3R):c.987T>G (p.Thr329=)
NM_000760.4(CSF3R):c.990C>T (p.Thr330=)
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.99C>A (p.Ala33=) rs1557597747

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