ClinVar Miner

List of variants reported as likely benign for familial cold autoinflammatory syndrome 4 by Labcorp Genetics (formerly Invitae), Labcorp

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 240
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001199138.2(NLRC4):c.2945C>G (p.Ala982Gly) rs147896952 0.00118
NM_001199138.2(NLRC4):c.478G>A (p.Ala160Thr) rs113631419 0.00077
NM_001199138.2(NLRC4):c.2256G>A (p.Pro752=) rs139310294 0.00061
NM_001199138.2(NLRC4):c.298G>A (p.Asp100Asn) rs149157799 0.00049
NM_001199138.2(NLRC4):c.2177T>C (p.Ile726Thr) rs143970368 0.00025
NM_001199138.2(NLRC4):c.2629G>A (p.Val877Met) rs147021864 0.00022
NM_001199138.2(NLRC4):c.1569C>T (p.Ile523=) rs758432190 0.00019
NM_001199138.2(NLRC4):c.2844T>C (p.Arg948=) rs367708050 0.00017
NM_001199138.2(NLRC4):c.90G>A (p.Trp30Ter) rs148696946 0.00017
NM_001199138.2(NLRC4):c.123T>C (p.Ile41=) rs149360963 0.00013
NM_001199138.2(NLRC4):c.822G>C (p.Met274Ile) rs140557163 0.00013
NM_001199138.2(NLRC4):c.126C>T (p.Cys42=) rs199789168 0.00012
NM_001199138.2(NLRC4):c.2883T>C (p.Phe961=) rs747016637 0.00011
NM_001199138.2(NLRC4):c.915_943del (p.Gln306fs) rs764773982 0.00009
NM_001199138.2(NLRC4):c.1545C>T (p.His515=) rs756754650 0.00008
NM_001199138.2(NLRC4):c.262+12T>G rs770802764 0.00008
NM_001199138.2(NLRC4):c.2847G>A (p.Val949=) rs201737340 0.00007
NM_001199138.2(NLRC4):c.2592A>G (p.Gly864=) rs142289215 0.00006
NM_001199138.2(NLRC4):c.480T>C (p.Ala160=) rs372559110 0.00006
NM_001199138.2(NLRC4):c.88del (p.Trp30fs) rs576282835 0.00006
NM_001199138.2(NLRC4):c.1080A>G (p.Thr360=) rs748510736 0.00005
NM_001199138.2(NLRC4):c.1443G>A (p.Ser481=) rs139211001 0.00005
NM_001199138.2(NLRC4):c.208C>T (p.Leu70Phe) rs201587008 0.00005
NM_001199138.2(NLRC4):c.2649A>G (p.Ala883=) rs752785896 0.00005
NM_001199138.2(NLRC4):c.30C>T (p.Ala10=) rs147408103 0.00005
NM_001199138.2(NLRC4):c.1044G>A (p.Gln348=) rs567746291 0.00004
NM_001199138.2(NLRC4):c.2257+10A>G rs751142560 0.00004
NM_001199138.2(NLRC4):c.240A>G (p.Leu80=) rs752238600 0.00004
NM_001199138.2(NLRC4):c.2614+9G>A rs963291466 0.00004
NM_001199138.2(NLRC4):c.263-15C>A rs762666722 0.00004
NM_001199138.2(NLRC4):c.1323C>T (p.Phe441=) rs780456558 0.00003
NM_001199138.2(NLRC4):c.1651A>T (p.Ile551Phe) rs781002536 0.00003
NM_001199138.2(NLRC4):c.207T>C (p.Phe69=) rs780364474 0.00003
NM_001199138.2(NLRC4):c.2258-6T>C rs775493450 0.00003
NM_001199138.2(NLRC4):c.2646C>T (p.Thr882=) rs147513575 0.00003
NM_001199138.2(NLRC4):c.918G>A (p.Gln306=) rs998499450 0.00003
NM_001199138.2(NLRC4):c.105C>T (p.Arg35=) rs751915363 0.00002
NM_001199138.2(NLRC4):c.129C>T (p.Cys43=) rs200374202 0.00002
NM_001199138.2(NLRC4):c.1357C>T (p.Arg453Ter) rs765641913 0.00002
NM_001199138.2(NLRC4):c.186T>C (p.Gly62=) rs748260149 0.00002
NM_001199138.2(NLRC4):c.199A>C (p.Asn67His) rs545004876 0.00002
NM_001199138.2(NLRC4):c.2-11C>T rs1166331051 0.00002
NM_001199138.2(NLRC4):c.2350+12G>C rs201505739 0.00002
NM_001199138.2(NLRC4):c.2487C>T (p.Ser829=) rs367982825 0.00002
NM_001199138.2(NLRC4):c.249C>T (p.Asp83=) rs117094017 0.00002
NM_001199138.2(NLRC4):c.2607T>C (p.His869=) rs773003121 0.00002
NM_001199138.2(NLRC4):c.2957A>G (p.Lys986Arg) rs552117780 0.00002
NM_001199138.2(NLRC4):c.3033T>G (p.Asp1011Glu) rs150062306 0.00002
NM_001199138.2(NLRC4):c.912C>T (p.Ser304=) rs368788664 0.00002
NM_001199138.2(NLRC4):c.1224C>T (p.Phe408=) rs761437489 0.00001
NM_001199138.2(NLRC4):c.1254G>A (p.Glu418=) rs139416512 0.00001
NM_001199138.2(NLRC4):c.1272T>C (p.Thr424=) rs553450270 0.00001
NM_001199138.2(NLRC4):c.1311A>G (p.Pro437=) rs755272665 0.00001
NM_001199138.2(NLRC4):c.1386T>C (p.His462=) rs1306350382 0.00001
NM_001199138.2(NLRC4):c.1902C>T (p.Ile634=) rs894226138 0.00001
NM_001199138.2(NLRC4):c.2247A>G (p.Gln749=) rs757751172 0.00001
NM_001199138.2(NLRC4):c.2351-9A>C rs1170848768 0.00001
NM_001199138.2(NLRC4):c.2370G>C (p.Leu790=) rs373493465 0.00001
NM_001199138.2(NLRC4):c.2522-4C>G rs750669618 0.00001
NM_001199138.2(NLRC4):c.263-12C>G rs1031162580 0.00001
NM_001199138.2(NLRC4):c.263-7C>G rs754559711 0.00001
NM_001199138.2(NLRC4):c.297C>T (p.Asp99=) rs199475952 0.00001
NM_001199138.2(NLRC4):c.549C>T (p.Ala183=) rs1573494931 0.00001
NM_001199138.2(NLRC4):c.753T>C (p.Asn251=) rs183190749 0.00001
NM_001199138.2(NLRC4):c.837T>C (p.Thr279=) rs772778654 0.00001
NM_001199138.2(NLRC4):c.909C>T (p.Asp303=) rs761116100 0.00001
NM_001199138.2(NLRC4):c.945G>A (p.Lys315=) rs746822837 0.00001
NM_001199138.2(NLRC4):c.999T>C (p.Asn333=) rs746141257 0.00001
NM_001199138.2(NLRC4):c.1+10T>A rs1430132339
NM_001199138.2(NLRC4):c.1+11G>T rs1391684257
NM_001199138.2(NLRC4):c.1014T>C (p.Pro338=) rs757435071
NM_001199138.2(NLRC4):c.1015del (p.Leu339fs)
NM_001199138.2(NLRC4):c.1020T>C (p.Phe340=)
NM_001199138.2(NLRC4):c.1023G>C (p.Val341=)
NM_001199138.2(NLRC4):c.1098C>T (p.Phe366=)
NM_001199138.2(NLRC4):c.1104T>C (p.Asp368=)
NM_001199138.2(NLRC4):c.1149A>C (p.Ala383=)
NM_001199138.2(NLRC4):c.1155C>T (p.Asp385=)
NM_001199138.2(NLRC4):c.1164G>C (p.Arg388=) rs2148942481
NM_001199138.2(NLRC4):c.1170G>A (p.Leu390=)
NM_001199138.2(NLRC4):c.1179T>C (p.Cys393=)
NM_001199138.2(NLRC4):c.1206C>T (p.Phe402=)
NM_001199138.2(NLRC4):c.120C>A (p.Ile40=) rs2148943838
NM_001199138.2(NLRC4):c.1242C>T (p.Ser414=) rs760629927
NM_001199138.2(NLRC4):c.1245C>T (p.Ser415=)
NM_001199138.2(NLRC4):c.1260C>T (p.Val420=)
NM_001199138.2(NLRC4):c.1290T>C (p.Tyr430=) rs769791090
NM_001199138.2(NLRC4):c.1317T>C (p.Tyr439=) rs1436221953
NM_001199138.2(NLRC4):c.1320A>G (p.Lys440=)
NM_001199138.2(NLRC4):c.132G>A (p.Glu44=)
NM_001199138.2(NLRC4):c.1409_1410dup (p.Asn471fs) rs1416370111
NM_001199138.2(NLRC4):c.1461T>C (p.Tyr487=)
NM_001199138.2(NLRC4):c.1467C>T (p.Ser489=) rs1203856404
NM_001199138.2(NLRC4):c.1476G>T (p.Arg492=) rs952121500
NM_001199138.2(NLRC4):c.1509G>A (p.Arg503=)
NM_001199138.2(NLRC4):c.1512T>C (p.Ala504=)
NM_001199138.2(NLRC4):c.1527C>T (p.Leu509=)
NM_001199138.2(NLRC4):c.1536G>C (p.Val512=)
NM_001199138.2(NLRC4):c.153T>C (p.Ala51=)
NM_001199138.2(NLRC4):c.1596A>G (p.Glu532=)
NM_001199138.2(NLRC4):c.1599T>C (p.Ser533=)
NM_001199138.2(NLRC4):c.1608T>C (p.Ser536=)
NM_001199138.2(NLRC4):c.1665A>G (p.Val555=) rs2148942028
NM_001199138.2(NLRC4):c.1776C>A (p.Pro592=) rs186059604
NM_001199138.2(NLRC4):c.1776C>G (p.Pro592=)
NM_001199138.2(NLRC4):c.1776C>T (p.Pro592=) rs186059604
NM_001199138.2(NLRC4):c.1798del (p.Glu600fs)
NM_001199138.2(NLRC4):c.1809C>T (p.Pro603=)
NM_001199138.2(NLRC4):c.1830C>T (p.Asp610=) rs2148941860
NM_001199138.2(NLRC4):c.1878G>A (p.Lys626=) rs773908458
NM_001199138.2(NLRC4):c.189A>C (p.Ser63=)
NM_001199138.2(NLRC4):c.1929C>T (p.Tyr643=) rs2148941779
NM_001199138.2(NLRC4):c.1939del (p.Arg647fs)
NM_001199138.2(NLRC4):c.1944T>C (p.Ala648=)
NM_001199138.2(NLRC4):c.2-2A>G
NM_001199138.2(NLRC4):c.2-4T>C
NM_001199138.2(NLRC4):c.2-6C>T
NM_001199138.2(NLRC4):c.2-8C>G rs2148943949
NM_001199138.2(NLRC4):c.201C>T (p.Asn67=) rs201127432
NM_001199138.2(NLRC4):c.2043G>A (p.Gly681=)
NM_001199138.2(NLRC4):c.2064A>G (p.Thr688=)
NM_001199138.2(NLRC4):c.2085G>A (p.Lys695=)
NM_001199138.2(NLRC4):c.2091T>C (p.Cys697=) rs2148941651
NM_001199138.2(NLRC4):c.2100G>A (p.Val700=) rs2148941641
NM_001199138.2(NLRC4):c.2124C>T (p.Leu708=)
NM_001199138.2(NLRC4):c.2139C>T (p.Asn713=)
NM_001199138.2(NLRC4):c.21T>C (p.Asn7=)
NM_001199138.2(NLRC4):c.2202T>A (p.Ser734=)
NM_001199138.2(NLRC4):c.2205A>T (p.Val735=)
NM_001199138.2(NLRC4):c.2217A>G (p.Lys739=)
NM_001199138.2(NLRC4):c.2232T>C (p.His744=) rs745938557
NM_001199138.2(NLRC4):c.2257+15A>C
NM_001199138.2(NLRC4):c.2257+16G>A
NM_001199138.2(NLRC4):c.2257+17T>C rs1687015676
NM_001199138.2(NLRC4):c.2257+20T>G
NM_001199138.2(NLRC4):c.2257+7T>C rs1573491625
NM_001199138.2(NLRC4):c.2258-11T>C
NM_001199138.2(NLRC4):c.2258-15T>G rs2148936567
NM_001199138.2(NLRC4):c.2258-19A>G
NM_001199138.2(NLRC4):c.2258-5G>C
NM_001199138.2(NLRC4):c.2258-8T>C rs2148936557
NM_001199138.2(NLRC4):c.2268_2271del (p.Asp757fs) rs746204807
NM_001199138.2(NLRC4):c.2277G>A (p.Leu759=) rs1573480813
NM_001199138.2(NLRC4):c.2284T>C (p.Leu762=)
NM_001199138.2(NLRC4):c.2313T>C (p.Asp771=)
NM_001199138.2(NLRC4):c.2350+15C>A
NM_001199138.2(NLRC4):c.2350+15C>G
NM_001199138.2(NLRC4):c.2350+18A>G
NM_001199138.2(NLRC4):c.2350+9T>A rs146103494
NM_001199138.2(NLRC4):c.2350+9del rs1686787668
NM_001199138.2(NLRC4):c.2351-11T>C
NM_001199138.2(NLRC4):c.2351-12A>G
NM_001199138.2(NLRC4):c.2351-18C>T
NM_001199138.2(NLRC4):c.2351-8T>C
NM_001199138.2(NLRC4):c.2388T>C (p.Phe796=)
NM_001199138.2(NLRC4):c.2391T>C (p.His797=) rs779700770
NM_001199138.2(NLRC4):c.2478A>G (p.Gln826=)
NM_001199138.2(NLRC4):c.2496G>A (p.Leu832=)
NM_001199138.2(NLRC4):c.2521+12T>G
NM_001199138.2(NLRC4):c.2522-11T>C
NM_001199138.2(NLRC4):c.2522-8T>C rs1573475609
NM_001199138.2(NLRC4):c.2548C>T (p.Leu850=)
NM_001199138.2(NLRC4):c.2568A>G (p.Ser856=)
NM_001199138.2(NLRC4):c.2589T>C (p.Asp863=) rs1573475520
NM_001199138.2(NLRC4):c.2614+7A>G
NM_001199138.2(NLRC4):c.2615-13_2615-12del rs767338677
NM_001199138.2(NLRC4):c.2615-20C>A
NM_001199138.2(NLRC4):c.2615-8T>C rs1553343121
NM_001199138.2(NLRC4):c.2616C>T (p.Ile872=)
NM_001199138.2(NLRC4):c.262+10A>G
NM_001199138.2(NLRC4):c.262+20G>C rs2148943710
NM_001199138.2(NLRC4):c.262+8T>A rs1447800775
NM_001199138.2(NLRC4):c.2628C>A (p.Asn876Lys) rs145285650
NM_001199138.2(NLRC4):c.263-11T>C
NM_001199138.2(NLRC4):c.263-19A>G
NM_001199138.2(NLRC4):c.263-20C>T rs2148943243
NM_001199138.2(NLRC4):c.263-9C>T rs1687080685
NM_001199138.2(NLRC4):c.2631G>A (p.Val877=) rs544474213
NM_001199138.2(NLRC4):c.2658G>A (p.Leu886=)
NM_001199138.2(NLRC4):c.265del (p.Leu89fs)
NM_001199138.2(NLRC4):c.2688G>A (p.Leu896=)
NM_001199138.2(NLRC4):c.2691C>T (p.Ser897=)
NM_001199138.2(NLRC4):c.2700G>A (p.Leu900=)
NM_001199138.2(NLRC4):c.2715G>A (p.Glu905=)
NM_001199138.2(NLRC4):c.2721A>G (p.Pro907=) rs1686650727
NM_001199138.2(NLRC4):c.2739G>A (p.Gly913=) rs778050684
NM_001199138.2(NLRC4):c.2772T>C (p.Ile924=)
NM_001199138.2(NLRC4):c.2782+13A>G
NM_001199138.2(NLRC4):c.2782+16C>T
NM_001199138.2(NLRC4):c.2782+18G>A
NM_001199138.2(NLRC4):c.2782+18G>T
NM_001199138.2(NLRC4):c.2782+19A>G
NM_001199138.2(NLRC4):c.2782+9A>T
NM_001199138.2(NLRC4):c.2783-13T>A
NM_001199138.2(NLRC4):c.2783-14dup
NM_001199138.2(NLRC4):c.2783-20A>G
NM_001199138.2(NLRC4):c.2802C>T (p.Asn934=) rs748341490
NM_001199138.2(NLRC4):c.2835G>A (p.Ala945=) rs1464438302
NM_001199138.2(NLRC4):c.2856T>C (p.Asp952=)
NM_001199138.2(NLRC4):c.2865T>G (p.Leu955=)
NM_001199138.2(NLRC4):c.2886G>A (p.Glu962=)
NM_001199138.2(NLRC4):c.2904G>C (p.Val968=) rs2148927448
NM_001199138.2(NLRC4):c.2916T>C (p.Phe972=) rs2148927438
NM_001199138.2(NLRC4):c.2970G>A (p.Val990=) rs1191568410
NM_001199138.2(NLRC4):c.301T>C (p.Leu101=)
NM_001199138.2(NLRC4):c.307C>T (p.Gln103Ter)
NM_001199138.2(NLRC4):c.315A>G (p.Leu105=) rs757595288
NM_001199138.2(NLRC4):c.327C>T (p.Tyr109=) rs1031872180
NM_001199138.2(NLRC4):c.411T>G (p.Pro137=) rs1687076385
NM_001199138.2(NLRC4):c.414C>T (p.Val138=)
NM_001199138.2(NLRC4):c.415C>T (p.Leu139=)
NM_001199138.2(NLRC4):c.432A>G (p.Gln144=) rs1192506477
NM_001199138.2(NLRC4):c.444C>T (p.Arg148=) rs771272152
NM_001199138.2(NLRC4):c.456G>A (p.Leu152=)
NM_001199138.2(NLRC4):c.459C>T (p.Thr153=)
NM_001199138.2(NLRC4):c.486G>A (p.Gln162=) rs2148943069
NM_001199138.2(NLRC4):c.513T>G (p.Ser171=) rs1050080627
NM_001199138.2(NLRC4):c.525G>A (p.Lys175=)
NM_001199138.2(NLRC4):c.561C>A (p.Gly187=)
NM_001199138.2(NLRC4):c.564C>T (p.Ser188=) rs753073813
NM_001199138.2(NLRC4):c.585C>G (p.Thr195=)
NM_001199138.2(NLRC4):c.594A>G (p.Lys198=)
NM_001199138.2(NLRC4):c.603C>T (p.Phe201=) rs2148942969
NM_001199138.2(NLRC4):c.633A>C (p.Gly211=)
NM_001199138.2(NLRC4):c.645C>T (p.Thr215=)
NM_001199138.2(NLRC4):c.648C>A (p.Leu216=) rs1474523535
NM_001199138.2(NLRC4):c.687G>A (p.Lys229=)
NM_001199138.2(NLRC4):c.731_732insCC (p.Phe245fs)
NM_001199138.2(NLRC4):c.744T>C (p.Asp248=) rs1390938463
NM_001199138.2(NLRC4):c.768G>A (p.Gln256=)
NM_001199138.2(NLRC4):c.78C>T (p.Asp26=)
NM_001199138.2(NLRC4):c.816G>A (p.Lys272=) rs2148942791
NM_001199138.2(NLRC4):c.81A>G (p.Leu27=)
NM_001199138.2(NLRC4):c.825C>A (p.Val275=)
NM_001199138.2(NLRC4):c.852G>A (p.Leu284=)
NM_001199138.2(NLRC4):c.855G>A (p.Arg285=) rs2148942750
NM_001199138.2(NLRC4):c.951T>A (p.Leu317=) rs2148942640
NM_001199138.2(NLRC4):c.964T>C (p.Leu322=)
NM_001199138.2(NLRC4):c.966G>A (p.Leu322=) rs1573494091
NM_001199138.2(NLRC4):c.969C>T (p.Leu323=)

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