ClinVar Miner

List of variants reported as uncertain significance for integumentary system benign neoplasm

Included ClinVar conditions (39):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 219
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HGVS dbSNP gnomAD frequency
NM_023110.3(FGFR1):c.899T>C (p.Ile300Thr) rs121909633 0.00042
NM_153490.3(KRT13):c.*228C>G rs574184263 0.00022
NM_023110.3(FGFR1):c.422C>G (p.Thr141Arg) rs200482627 0.00014
NM_000142.5(FGFR3):c.2153A>G (p.Asn718Ser) rs139773438 0.00011
NM_002272.4(KRT4):c.*289G>A rs886049639 0.00010
NM_023110.3(FGFR1):c.231C>G (p.Asn77Lys) rs767195580 0.00010
NM_006218.4(PIK3CA):c.1130C>G (p.Pro377Arg) rs113613074 0.00009
NM_002272.4(KRT4):c.1417A>T (p.Ser473Cys) rs367751022 0.00008
NM_002272.4(KRT4):c.364C>G (p.Leu122Val) rs758695571 0.00007
NM_005343.4(HRAS):c.506G>A (p.Arg169Gln) rs142218590 0.00007
NM_023110.3(FGFR1):c.1408C>T (p.Arg470Cys) rs781310679 0.00007
NM_023110.3(FGFR1):c.1186G>A (p.Val396Ile) rs752627281 0.00006
NM_005343.4(HRAS):c.508A>T (p.Lys170Ter) rs372936166 0.00005
NM_002272.4(KRT4):c.405G>A (p.Thr135=) rs762792489 0.00004
NM_023110.3(FGFR1):c.2428C>T (p.His810Tyr) rs759376422 0.00004
NM_023110.3(FGFR1):c.266A>G (p.Gln89Arg) rs773938208 0.00004
NM_023110.3(FGFR1):c.378G>T (p.Glu126Asp) rs758823379 0.00004
NM_023110.3(FGFR1):c.566G>A (p.Arg189His) rs778166317 0.00004
NM_023110.3(FGFR1):c.937-14G>A rs779223305 0.00004
NM_153490.3(KRT13):c.759G>C (p.Gln253His) rs766894151 0.00004
NM_000142.5(FGFR3):c.1718C>T (p.Pro573Leu) rs745848425 0.00003
NM_002272.4(KRT4):c.317C>G (p.Ala106Gly) rs753431318 0.00003
NM_005343.4(HRAS):c.412G>A (p.Gly138Ser) rs397517142 0.00003
NM_005343.4(HRAS):c.505C>T (p.Arg169Trp) rs151229168 0.00003
NM_006218.4(PIK3CA):c.2980C>T (p.His994Tyr) rs1160295534 0.00003
NM_153490.3(KRT13):c.*175G>A rs1459808765 0.00003
NM_153490.3(KRT13):c.1350C>T (p.Arg450=) rs140142101 0.00003
NM_153490.3(KRT13):c.991C>T (p.Leu331=) rs771435962 0.00003
NM_000142.5(FGFR3):c.1267G>C (p.Val423Leu) rs1256546303 0.00002
NM_000142.5(FGFR3):c.1993G>T (p.Ala665Ser) rs764892330 0.00002
NM_000142.5(FGFR3):c.2294C>T (p.Ala765Val) rs140211846 0.00002
NM_002272.4(KRT4):c.*496T>G rs753033796 0.00002
NM_002272.4(KRT4):c.193G>A (p.Val65Met) rs754420448 0.00002
NM_005343.4(HRAS):c.367C>T (p.Arg123Cys) rs369106578 0.00002
NM_006218.4(PIK3CA):c.341A>G (p.Asn114Ser) rs746860750 0.00002
NM_015922.3(NSDHL):c.263G>A (p.Arg88Gln) rs781879080 0.00002
NM_015922.3(NSDHL):c.560A>G (p.Asn187Ser) rs782332983 0.00002
NM_015922.3(NSDHL):c.790-9T>A rs1323999679 0.00002
NM_015922.3(NSDHL):c.947C>G (p.Pro316Arg) rs782141957 0.00002
NM_023110.3(FGFR1):c.1139A>G (p.Tyr380Cys) rs777103792 0.00002
NM_023110.3(FGFR1):c.1342C>T (p.Arg448Trp) rs749903780 0.00002
NM_023110.3(FGFR1):c.1809C>T (p.Cys603=) rs377314381 0.00002
NM_023110.3(FGFR1):c.2426G>A (p.Arg809Gln) rs771680156 0.00002
NM_023110.3(FGFR1):c.2465G>A (p.Arg822His) rs758677681 0.00002
NM_033360.4(KRAS):c.389C>T (p.Ala130Val) rs730880473 0.00002
NM_153490.3(KRT13):c.1295C>G (p.Ser432Cys) rs1394162514 0.00002
NM_000142.5(FGFR3):c.1255C>T (p.Leu419Phe) rs770029887 0.00001
NM_000142.5(FGFR3):c.1547A>G (p.Asp516Gly) rs772276122 0.00001
NM_000142.5(FGFR3):c.184C>T (p.Pro62Ser) rs533866031 0.00001
NM_000142.5(FGFR3):c.200G>A (p.Gly67Asp) rs369232922 0.00001
NM_000142.5(FGFR3):c.2413C>T (p.Arg805Trp) rs369758941 0.00001
NM_002272.4(KRT4):c.1347-3C>T rs777376453 0.00001
NM_002272.4(KRT4):c.1441G>A (p.Gly481Arg) rs771250577 0.00001
NM_002272.4(KRT4):c.457G>A (p.Asp153Asn) rs780754412 0.00001
NM_002272.4(KRT4):c.677+4C>T rs886049642 0.00001
NM_002272.4(KRT4):c.678-10C>T rs777722293 0.00001
NM_004985.5(KRAS):c.407G>A (p.Ser136Asn) rs757816355 0.00001
NM_004985.5(KRAS):c.487A>G (p.Ile163Val) rs1470495974 0.00001
NM_005343.4(HRAS):c.11A>G (p.Tyr4Cys) rs764622691 0.00001
NM_005343.4(HRAS):c.391C>T (p.Gln131Ter) rs376688893 0.00001
NM_005343.4(HRAS):c.410A>C (p.Tyr137Ser) rs1180561549 0.00001
NM_005343.4(HRAS):c.546G>A (p.Met182Ile) rs748639813 0.00001
NM_006218.4(PIK3CA):c.1494G>T (p.Trp498Cys) rs1271146910 0.00001
NM_006218.4(PIK3CA):c.2651A>G (p.Lys884Arg) rs1395235750 0.00001
NM_006218.4(PIK3CA):c.436G>A (p.Val146Ile) rs755969956 0.00001
NM_015922.3(NSDHL):c.265C>G (p.Gln89Glu) rs145580873 0.00001
NM_015922.3(NSDHL):c.565C>T (p.Pro189Ser) rs782376691 0.00001
NM_023110.3(FGFR1):c.*112C>T rs1189535138 0.00001
NM_023110.3(FGFR1):c.1072G>A (p.Val358Ile) rs774768179 0.00001
NM_023110.3(FGFR1):c.1078G>A (p.Glu360Lys) rs982371464 0.00001
NM_023110.3(FGFR1):c.1114C>T (p.Pro372Ser) rs377648976 0.00001
NM_023110.3(FGFR1):c.1179G>A (p.Ser393=) rs374674165 0.00001
NM_023110.3(FGFR1):c.128T>G (p.Phe43Cys) rs1085307493 0.00001
NM_023110.3(FGFR1):c.1333C>T (p.Arg445Trp) rs781608303 0.00001
NM_023110.3(FGFR1):c.1399G>A (p.Glu467Lys) rs923019674 0.00001
NM_023110.3(FGFR1):c.1424G>A (p.Arg475Gln) rs747333248 0.00001
NM_023110.3(FGFR1):c.1447C>T (p.Pro483Ser) rs397515444 0.00001
NM_023110.3(FGFR1):c.166C>T (p.Arg56Trp) rs1034848904 0.00001
NM_023110.3(FGFR1):c.1711G>A (p.Glu571Lys) rs771720144 0.00001
NM_023110.3(FGFR1):c.173G>A (p.Arg58Gln) rs200116660 0.00001
NM_023110.3(FGFR1):c.1774G>A (p.Glu592Lys) rs755002934 0.00001
NM_023110.3(FGFR1):c.178G>A (p.Asp60Asn) rs1586379709 0.00001
NM_023110.3(FGFR1):c.2023C>T (p.Arg675Trp) rs375611478 0.00001
NM_023110.3(FGFR1):c.20T>G (p.Leu7Arg) rs532741632 0.00001
NM_023110.3(FGFR1):c.2200C>T (p.Arg734Trp) rs1329256283 0.00001
NM_023110.3(FGFR1):c.2350C>T (p.Arg784Trp) rs377149398 0.00001
NM_023110.3(FGFR1):c.2370_2371del (p.Glu792fs) rs767698667 0.00001
NM_023110.3(FGFR1):c.274G>A (p.Val92Met) rs755828990 0.00001
NM_023110.3(FGFR1):c.332C>T (p.Thr111Ile) rs775020833 0.00001
NM_023110.3(FGFR1):c.346G>A (p.Val116Ile) rs747842199 0.00001
NM_023110.3(FGFR1):c.381T>G (p.Asp127Glu) rs750795714 0.00001
NM_023110.3(FGFR1):c.403T>A (p.Ser135Thr) rs775228360 0.00001
NM_023110.3(FGFR1):c.442C>T (p.Arg148Cys) rs780153672 0.00001
NM_023110.3(FGFR1):c.443G>A (p.Arg148His) rs515726222 0.00001
NM_023110.3(FGFR1):c.584A>G (p.Lys195Arg) rs770139002 0.00001
NM_023110.3(FGFR1):c.8G>A (p.Ser3Asn) rs751651299 0.00001
NM_033360.4(KRAS):c.112-5C>T rs376520586 0.00001
NM_153490.3(KRT13):c.*74A>C rs886052907 0.00001
NM_153490.3(KRT13):c.1220G>A (p.Ser407Asn) rs1265435884 0.00001
NM_153490.3(KRT13):c.337G>A (p.Asp113Asn) rs886052908 0.00001
NM_153490.3(KRT13):c.496-9A>G rs780820686 0.00001
NM_153490.3(KRT13):c.823G>A (p.Ala275Thr) rs767618537 0.00001
46;X;inv(X)(q26q28)dn
NM_000142.5(FGFR3):c.1946A>G (p.Lys649Arg) rs1448029825
NM_000142.5(FGFR3):c.2005C>G (p.Arg669Gly) rs1490564667
NM_000142.5(FGFR3):c.598C>T (p.Arg200Cys) rs886043613
NM_001101.5(ACTB):c.848T>C (p.Met283Thr)
NM_002253.4(KDR):c.1136C>T (p.Ala379Val)
NM_002272.4(KRT4):c.*126C>A rs886049640
NM_002272.4(KRT4):c.*405G>A rs886049638
NM_002272.4(KRT4):c.1072C>G (p.Leu358Val) rs1939839883
NM_002272.4(KRT4):c.1467C>A (p.Gly489=) rs1345230715
NM_002272.4(KRT4):c.186C>T (p.Ser62=) rs886049645
NM_002272.4(KRT4):c.25C>G (p.Arg9Gly) rs886049646
NM_002272.4(KRT4):c.353T>G (p.Leu118Trp) rs886049644
NM_002272.4(KRT4):c.463-9T>C rs886049643
NM_002272.4(KRT4):c.54C>G (p.Gly18=) rs748727199
NM_002272.4(KRT4):c.726G>A (p.Val242=) rs886049641
NM_002272.4(KRT4):c.741C>G (p.Asp247Glu) rs369593094
NM_002272.4(KRT4):c.834+2T>G rs937464890
NM_002524.5(NRAS):c.25G>A (p.Val9Ile) rs1553244682
NM_004297.4(GNA14):c.215C>T (p.Thr72Met)
NM_004297.4(GNA14):c.356T>C (p.Met119Thr)
NM_004985.5(KRAS):c.168C>T (p.Leu56=)
NM_004985.5(KRAS):c.184GAG[1] (p.Glu63del) rs730880469
NM_004985.5(KRAS):c.331A>G (p.Met111Val)
NM_004985.5(KRAS):c.352T>C (p.Cys118Arg) rs1951384485
NM_004985.5(KRAS):c.365C>G (p.Ser122Cys)
NM_004985.5(KRAS):c.388_389delinsAT (p.Ala130Ile) rs1951383854
NM_004985.5(KRAS):c.450+5G>A
NM_004985.5(KRAS):c.451-6T>C
NM_005343.4(HRAS):c.481C>T (p.Arg161Cys) rs758956556
NM_005343.4(HRAS):c.491G>C (p.Arg164Pro) rs753977266
NM_005343.4(HRAS):c.550T>G (p.Cys184Gly)
NM_006218.4(PIK3CA):c.1082A>G (p.Tyr361Cys) rs1724506239
NM_006218.4(PIK3CA):c.1189C>T (p.Pro397Ser)
NM_006218.4(PIK3CA):c.1442G>A (p.Ser481Asn)
NM_006218.4(PIK3CA):c.1476T>G (p.Ile492Met) rs557949672
NM_006218.4(PIK3CA):c.1701A>T (p.Lys567Asn)
NM_006218.4(PIK3CA):c.1860A>T (p.Glu620Asp)
NM_006218.4(PIK3CA):c.1873G>A (p.Asp625Asn)
NM_006218.4(PIK3CA):c.1A>G (p.Met1Val) rs1724332515
NM_006218.4(PIK3CA):c.2048G>C (p.Arg683Thr) rs1576943715
NM_006218.4(PIK3CA):c.2949G>A (p.Met983Ile)
NM_006218.4(PIK3CA):c.314T>G (p.Val105Gly)
NM_014874.4(MFN2):c.1555C>T (p.Arg519Cys) rs369140232
NM_015922.3(NSDHL):c.1031A>G (p.Lys344Arg) rs2125017628
NM_015922.3(NSDHL):c.1037C>G (p.Ala346Gly) rs782563536
NM_015922.3(NSDHL):c.1054C>G (p.Leu352Val) rs142351862
NM_015922.3(NSDHL):c.1100G>A (p.Arg367His)
NM_015922.3(NSDHL):c.1118A>G (p.Lys373Arg) rs1933665377
NM_015922.3(NSDHL):c.164A>G (p.Glu55Gly)
NM_015922.3(NSDHL):c.19G>A (p.Glu7Lys)
NM_015922.3(NSDHL):c.414+2T>C
NM_015922.3(NSDHL):c.43C>T (p.Arg15Trp)
NM_015922.3(NSDHL):c.529A>G (p.Ile177Val)
NM_015922.3(NSDHL):c.656C>T (p.Ala219Val)
NM_015922.3(NSDHL):c.691G>A (p.Gly231Arg)
NM_015922.3(NSDHL):c.74T>C (p.Val25Ala)
NM_015922.3(NSDHL):c.754G>C (p.Glu252Gln)
NM_015922.3(NSDHL):c.770A>G (p.Asp257Gly)
NM_015922.3(NSDHL):c.780G>A (p.Leu260=)
NM_015922.3(NSDHL):c.830C>G (p.Thr277Arg)
NM_015922.3(NSDHL):c.842G>T (p.Arg281Leu)
NM_015922.3(NSDHL):c.847C>G (p.Leu283Val)
NM_023110.3(FGFR1):c.-88-3566dup rs1424371425
NM_023110.3(FGFR1):c.1039A>G (p.Ile347Val)
NM_023110.3(FGFR1):c.112G>A (p.Val38Met)
NM_023110.3(FGFR1):c.1137C>T (p.Ile379=)
NM_023110.3(FGFR1):c.1171G>A (p.Val391Met)
NM_023110.3(FGFR1):c.1196T>C (p.Met399Thr)
NM_023110.3(FGFR1):c.1270C>A (p.Arg424Ser)
NM_023110.3(FGFR1):c.1285-18C>G
NM_023110.3(FGFR1):c.1288T>A (p.Ser430Thr)
NM_023110.3(FGFR1):c.1309A>G (p.Met437Val)
NM_023110.3(FGFR1):c.1352C>A (p.Ser451Tyr)
NM_023110.3(FGFR1):c.1383T>C (p.Ser461=)
NM_023110.3(FGFR1):c.148C>T (p.Leu50=)
NM_023110.3(FGFR1):c.1495G>A (p.Gly499Arg) rs759552236
NM_023110.3(FGFR1):c.1694C>T (p.Ser565Phe) rs768223019
NM_023110.3(FGFR1):c.1710G>T (p.Arg570=)
NM_023110.3(FGFR1):c.1727G>A (p.Arg576Gln) rs1482868825
NM_023110.3(FGFR1):c.1767C>A (p.His589Gln)
NM_023110.3(FGFR1):c.176A>T (p.Asp59Val)
NM_023110.3(FGFR1):c.1775A>G (p.Glu592Gly)
NM_023110.3(FGFR1):c.1793A>C (p.Lys598Thr)
NM_023110.3(FGFR1):c.2031C>T (p.Tyr677=)
NM_023110.3(FGFR1):c.205G>A (p.Asp69Asn)
NM_023110.3(FGFR1):c.2107G>A (p.Gly703Ser)
NM_023110.3(FGFR1):c.2121G>A (p.Glu707=)
NM_023110.3(FGFR1):c.2150A>G (p.His717Arg)
NM_023110.3(FGFR1):c.2228A>G (p.Gln743Arg)
NM_023110.3(FGFR1):c.2251G>A (p.Val751Met) rs2150520798
NM_023110.3(FGFR1):c.2292G>C (p.Gln764His)
NM_023110.3(FGFR1):c.2313G>A (p.Met771Ile)
NM_023110.3(FGFR1):c.2323C>G (p.Gln775Glu) rs1232665126
NM_023110.3(FGFR1):c.2344G>A (p.Asp782Asn)
NM_023110.3(FGFR1):c.2360C>T (p.Thr787Met)
NM_023110.3(FGFR1):c.2407G>A (p.Glu803Lys)
NM_023110.3(FGFR1):c.2413C>T (p.Pro805Ser)
NM_023110.3(FGFR1):c.2425C>T (p.Arg809Ter)
NM_023110.3(FGFR1):c.245C>G (p.Thr82Arg)
NM_023110.3(FGFR1):c.2461C>T (p.Arg821Cys)
NM_023110.3(FGFR1):c.281C>A (p.Ala94Glu)
NM_023110.3(FGFR1):c.289G>T (p.Gly97Cys) rs1260404537
NM_023110.3(FGFR1):c.399C>A (p.Asp133Glu)
NM_023110.3(FGFR1):c.622-20C>T
NM_023110.3(FGFR1):c.626G>A (p.Arg209His)
NM_023110.3(FGFR1):c.746-14C>T
NM_023110.3(FGFR1):c.789C>T (p.Ala263=) rs780944776
NM_023110.3(FGFR1):c.827T>C (p.Met276Thr)
NM_023110.3(FGFR1):c.92-14C>A
NM_033360.4(KRAS):c.*101_*106del rs1339924833
NM_153490.3(KRT13):c.*162T>C rs1904829902
NM_153490.3(KRT13):c.*19C>T rs760565338
NM_153490.3(KRT13):c.*85C>T rs886052906
NM_153490.3(KRT13):c.523C>G (p.Arg175Gly) rs764088068
NM_153490.3(KRT13):c.540T>C (p.Ile180=) rs755205284
NM_153490.3(KRT13):c.853G>A (p.Ala285Thr) rs1904920258

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