ClinVar Miner

Variants in gene FGFR3 with conflicting interpretations

Y axis minimum submission review status: Y axis collection method:
X axis minimum submission review status: X axis collection method:
Minimum conflict level:
Gene type:
ClinVar version:

If a variant has more than two submissions, it may have multiple conflicts and therefore be counted in more than one conflict column. If this is the case, the "Variants with any kind of conflict" cell will be less than the sum of the conflicted variants cells to its left.

Variants with only 1 submission per condition Variants with at least 2 submissions on the same condition and no conflicts Variants with a synonymous conflict
(e.g. benign vs non-pathogenic) 		Variants with a confidence conflict
(e.g. benign vs likely benign) 		Variants with a benign or likely benign vs uncertain conflict Variants with a category conflict
(e.g. benign vs affects) 		Variants with a clinically significant conflict
(e.g. benign vs pathogenic) 		Variants with any conflict
761 230 0 62 44 0 7 108

Significance breakdown #

In the table below, cells that correspond to a term paired with itself represent synonymous conflicts, i.e. variants that have been annotated with different terms that map to the same standard term. To compare the terms that were actually submitted, check the box in the filters section at the top of this page.

pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 0 10 1 0 0
likely pathogenic 10 0 6 0 0
uncertain significance 1 6 0 43 5
likely benign 0 0 43 0 52
benign 0 0 5 52 0

All variants with conflicting interpretations #

Total variants: 108
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000142.5(FGFR3):c.445+3A>G rs3135868 0.09950
NM_000142.5(FGFR3):c.1953= (p.Thr651=) rs7688609 0.04011
NM_000142.5(FGFR3):c.588C>T (p.Arg196=) rs2305180 0.03125
NM_000142.5(FGFR3):c.615+8C>G rs17878375 0.02283
NM_000142.5(FGFR3):c.1076-17C>T rs17881967 0.01914
NM_000142.5(FGFR3):c.348C>T (p.Arg116=) rs2305179 0.01724
NM_000142.5(FGFR3):c.1075+5C>T rs3135885 0.01659
NM_000142.5(FGFR3):c.2169-33G>A rs3135899 0.01105
NM_000142.5(FGFR3):c.1345C>T (p.Pro449Ser) rs61735104 0.00867
NM_000142.5(FGFR3):c.109+26G>A rs17884282 0.00853
NM_000142.5(FGFR3):c.1076-13C>T rs114754024 0.00694
NM_000142.5(FGFR3):c.663G>A (p.Ser221=) rs114421370 0.00458
NM_000142.5(FGFR3):c.1150T>C (p.Phe384Leu) rs17881656 0.00342
NM_000142.5(FGFR3):c.1535-8G>T rs111460786 0.00332
NM_000142.5(FGFR3):c.1014C>T (p.Thr338=) rs4647928 0.00328
NM_000142.5(FGFR3):c.2205C>G (p.Pro735=) rs145020302 0.00287
NM_000142.5(FGFR3):c.1076-16G>A rs3135889 0.00285
NM_000142.5(FGFR3):c.393G>A (p.Ser131=) rs55662109 0.00284
NM_000142.5(FGFR3):c.*5C>G rs17879364 0.00194
NM_000142.5(FGFR3):c.169G>A (p.Val57Met) rs61735064 0.00149
NM_000142.5(FGFR3):c.678C>T (p.Tyr226=) rs141575580 0.00139
NM_000142.5(FGFR3):c.2169-5C>T rs17884617 0.00112
NM_000142.5(FGFR3):c.1497C>T (p.Ala499=) rs140594137 0.00106
NM_000142.5(FGFR3):c.2043G>A (p.Gly681=) rs17883356 0.00101
NM_000142.5(FGFR3):c.1349C>T (p.Thr450Met) rs56240927 0.00099
NM_000142.5(FGFR3):c.193G>A (p.Gly65Arg) rs2305178 0.00097
NM_000142.5(FGFR3):c.2149G>A (p.Ala717Thr) rs17882190 0.00089
NM_000142.5(FGFR3):c.1923C>T (p.Asp641=) rs148104605 0.00073
NM_000142.5(FGFR3):c.1371C>T (p.Leu457=) rs199758988 0.00057
NM_000142.5(FGFR3):c.1671C>T (p.Tyr557=) rs370408732 0.00057
NM_000142.5(FGFR3):c.1959+8C>T rs371666188 0.00055
NM_000142.5(FGFR3):c.2088C>T (p.Pro696=) rs142884145 0.00052
NM_000142.5(FGFR3):c.1023G>A (p.Ala341=) rs147833498 0.00050
NM_000142.5(FGFR3):c.252G>A (p.Ser84=) rs367973461 0.00045
NM_000142.5(FGFR3):c.713G>A (p.Arg238Gln) rs199944818 0.00037
NM_000142.5(FGFR3):c.130G>A (p.Gly44Ser) rs146080119 0.00036
NM_000142.5(FGFR3):c.2396C>T (p.Pro799Leu) rs150452037 0.00028
NM_000142.5(FGFR3):c.490C>G (p.Leu164Val) rs577990843 0.00025
NM_000142.5(FGFR3):c.807C>T (p.Ser269=) rs199614237 0.00021
NM_000142.5(FGFR3):c.2272G>A (p.Asp758Asn) rs56266857 0.00019
NM_000142.5(FGFR3):c.1550A>G (p.Lys517Arg) rs139707740 0.00017
NM_000142.5(FGFR3):c.2259C>T (p.Thr753=) rs146662137 0.00015
NM_000142.5(FGFR3):c.930+10C>T rs534857289 0.00015
NM_000142.5(FGFR3):c.933G>A (p.Thr311=) rs142805104 0.00015
NM_000142.5(FGFR3):c.1287G>A (p.Ala429=) rs187229103 0.00013
NM_000142.5(FGFR3):c.616-18G>C rs372940259 0.00013
NM_000142.5(FGFR3):c.2153A>G (p.Asn718Ser) rs139773438 0.00012
NM_000142.5(FGFR3):c.1227C>T (p.Pro409=) rs533316478 0.00009
NM_000142.5(FGFR3):c.1285G>A (p.Ala429Thr) rs182935140 0.00009
NM_000142.5(FGFR3):c.1513G>A (p.Val505Ile) rs144546453 0.00008
NM_000142.5(FGFR3):c.2362G>A (p.Val788Met) rs371433215 0.00008
NM_000142.5(FGFR3):c.335G>A (p.Arg112Gln) rs758163128 0.00008
NM_000142.5(FGFR3):c.707G>A (p.Ser236Asn) rs200495316 0.00008
NM_000142.5(FGFR3):c.1753C>T (p.Pro585Ser) rs761163163 0.00007
NM_000142.5(FGFR3):c.1830C>G (p.Ser610=) rs758618182 0.00007
NM_000142.5(FGFR3):c.1879G>A (p.Glu627Lys) rs200849753 0.00007
NM_000142.5(FGFR3):c.416A>C (p.Asp139Ala) rs376268669 0.00007
NM_000142.5(FGFR3):c.639G>A (p.Leu213=) rs138707520 0.00007
NM_000142.5(FGFR3):c.1498G>A (p.Ala500Thr) rs751635116 0.00006
NM_000142.5(FGFR3):c.272C>T (p.Pro91Leu) rs144995231 0.00006
NM_000142.5(FGFR3):c.885C>T (p.Gly295=) rs375181682 0.00006
NM_000142.5(FGFR3):c.1449C>T (p.Phe483=) rs545617229 0.00005
NM_000142.5(FGFR3):c.1733C>T (p.Ser578Phe) rs989826317 0.00005
NM_000142.5(FGFR3):c.1752G>A (p.Pro584=) rs139020690 0.00004
NM_000142.5(FGFR3):c.2028C>T (p.Asp676=) rs754598297 0.00004
NM_000142.5(FGFR3):c.940G>A (p.Ala314Thr) rs748488719 0.00004
NM_000142.5(FGFR3):c.985G>A (p.Val329Ile) rs188723332 0.00004
NM_000142.5(FGFR3):c.1002C>T (p.Ala334=) rs376787929 0.00003
NM_000142.5(FGFR3):c.1576A>G (p.Met526Val) rs766053734 0.00003
NM_000142.5(FGFR3):c.1596C>T (p.Ile532=) rs528979086 0.00003
NM_000142.5(FGFR3):c.1195C>T (p.Arg399Cys) rs370064407 0.00002
NM_000142.5(FGFR3):c.1205C>G (p.Pro402Arg) rs752194597 0.00002
NM_000142.5(FGFR3):c.2270C>G (p.Thr757Ser) rs748763892 0.00002
NM_000142.5(FGFR3):c.2418G>A (p.Thr806=) rs779088139 0.00002
NM_000142.5(FGFR3):c.1106C>T (p.Ala369Val) rs146970233 0.00001
NM_000142.5(FGFR3):c.1223C>T (p.Ser408Phe) rs761877926 0.00001
NM_000142.5(FGFR3):c.1263A>G (p.Arg421=) rs866774930 0.00001
NM_000142.5(FGFR3):c.1290C>T (p.Ser430=) rs3135891 0.00001
NM_000142.5(FGFR3):c.150C>T (p.Val50=) rs750641928 0.00001
NM_000142.5(FGFR3):c.1612A>G (p.Ile538Val) rs80053154 0.00001
NM_000142.5(FGFR3):c.1618A>G (p.Asn540Asp) rs1057519049 0.00001
NM_000142.5(FGFR3):c.1645+4G>C rs1367336734 0.00001
NM_000142.5(FGFR3):c.1646-17G>A rs1269493186 0.00001
NM_000142.5(FGFR3):c.1882G>A (p.Asp628Asn) rs1453271838 0.00001
NM_000142.5(FGFR3):c.446-10C>T rs762297923 0.00001
NM_000142.5(FGFR3):c.514G>A (p.Val172Ile) rs529408918 0.00001
NM_000142.5(FGFR3):c.630G>A (p.Gln210=) rs777091470 0.00001
NM_000142.5(FGFR3):c.666C>T (p.Asp222=) rs201081464 0.00001
NM_000142.5(FGFR3):c.-102-18_-102-11del rs1452696194
NM_000142.5(FGFR3):c.1052C>G (p.Ser351Cys) rs1057517964
NM_000142.5(FGFR3):c.1619A>C (p.Asn540Thr) rs77722678
NM_000142.5(FGFR3):c.1620C>G (p.Asn540Lys) rs28933068
NM_000142.5(FGFR3):c.1646-11C>A rs763302590
NM_000142.5(FGFR3):c.1657G>A (p.Val553Met) rs199544087
NM_000142.5(FGFR3):c.1663G>C (p.Val555Leu) rs1474187970
NM_000142.5(FGFR3):c.188C>G (p.Pro63Arg) rs371729802
NM_000142.5(FGFR3):c.1950G>C (p.Lys650Asn) rs28928868
NM_000142.5(FGFR3):c.2271C>T (p.Thr757=)
NM_000142.5(FGFR3):c.2421A>G (p.Ter807Trp) rs121913103
NM_000142.5(FGFR3):c.251C>T (p.Ser84Leu) rs121913116
NM_000142.5(FGFR3):c.598C>T (p.Arg200Cys) rs886043613
NM_000142.5(FGFR3):c.615+6C>A rs2305182
NM_000142.5(FGFR3):c.667C>T (p.Arg223Cys) rs1721198491
NM_000142.5(FGFR3):c.749C>G (p.Pro250Arg) rs4647924
NM_000142.5(FGFR3):c.749C>T (p.Pro250Leu) rs4647924
NM_000142.5(FGFR3):c.833A>G (p.Tyr278Cys) rs121913115
NM_000142.5(FGFR3):c.912C>G (p.Pro304=) rs201012537
NM_000142.5(FGFR3):c.983A>T (p.Asn328Ile) rs587778817

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