ClinVar Miner

Variants in gene FREM2 with conflicting interpretations

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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
1994 248 0 33 47 0 3 75

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 2 2 0 0
likely pathogenic 2 0 1 0 0
uncertain significance 2 1 0 45 10
likely benign 0 0 45 0 31
benign 0 0 10 31 0

All variants with conflicting interpretations #

Total variants: 75
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_207361.6(FREM2):c.3209T>C (p.Phe1070Ser) rs2496425 0.43515
NM_207361.6(FREM2):c.1518C>T (p.Ser506=) rs141821695 0.00768
NM_207361.6(FREM2):c.4031G>A (p.Arg1344His) rs143044921 0.00430
NM_207361.6(FREM2):c.8902G>A (p.Val2968Ile) rs116099212 0.00379
NM_207361.6(FREM2):c.4319C>A (p.Thr1440Lys) rs79048205 0.00366
NM_207361.6(FREM2):c.3979T>A (p.Leu1327Ile) rs116653247 0.00362
NM_207361.6(FREM2):c.5642-12T>C rs144415935 0.00329
NM_207361.6(FREM2):c.8460C>G (p.Ala2820=) rs138775857 0.00325
NM_207361.6(FREM2):c.2128C>T (p.Arg710Cys) rs41292753 0.00263
NM_207361.6(FREM2):c.9071A>G (p.Asn3024Ser) rs115149211 0.00261
NM_207361.6(FREM2):c.9266A>G (p.His3089Arg) rs76949956 0.00257
NM_207361.6(FREM2):c.9113T>C (p.Val3038Ala) rs114688149 0.00204
NM_207361.6(FREM2):c.84C>G (p.Pro28=) rs141718695 0.00194
NM_207361.6(FREM2):c.7323G>A (p.Ala2441=) rs147563277 0.00147
NM_207361.6(FREM2):c.5642-9T>C rs148794835 0.00139
NM_207361.6(FREM2):c.595G>T (p.Ala199Ser) rs151296346 0.00134
NM_207361.6(FREM2):c.9038C>T (p.Thr3013Met) rs114400765 0.00118
NM_207361.6(FREM2):c.3539C>G (p.Pro1180Arg) rs139236965 0.00107
NM_207361.6(FREM2):c.7429C>T (p.Arg2477Trp) rs143571375 0.00105
NM_207361.6(FREM2):c.5417G>A (p.Gly1806Asp) rs145208009 0.00095
NM_207361.6(FREM2):c.2367G>A (p.Pro789=) rs140101984 0.00090
NM_207361.6(FREM2):c.1580C>T (p.Ser527Leu) rs139804851 0.00084
NM_207361.6(FREM2):c.8671+14A>G rs182974545 0.00082
NM_207361.6(FREM2):c.177T>C (p.Gly59=) rs370018440 0.00079
NM_207361.6(FREM2):c.7590C>T (p.Gly2530=) rs200338297 0.00079
NM_207361.6(FREM2):c.2823C>T (p.Pro941=) rs150154438 0.00076
NM_207361.6(FREM2):c.2740T>G (p.Cys914Gly) rs146685625 0.00059
NM_207361.6(FREM2):c.305G>C (p.Gly102Ala) rs576435356 0.00055
NM_207361.6(FREM2):c.2133G>A (p.Met711Ile) rs115446826 0.00052
NM_207361.6(FREM2):c.4960A>C (p.Ser1654Arg) rs114595447 0.00045
NM_207361.6(FREM2):c.2754C>T (p.Val918=) rs140353326 0.00043
NM_207361.6(FREM2):c.6201T>A (p.Asn2067Lys) rs114229197 0.00042
NM_207361.6(FREM2):c.2620C>T (p.His874Tyr) rs114555425 0.00033
NM_207361.6(FREM2):c.2480A>C (p.Asn827Thr) rs190810317 0.00029
NM_207361.6(FREM2):c.8337C>T (p.Ser2779=) rs181564966 0.00029
NM_207361.6(FREM2):c.7062G>A (p.Thr2354=) rs41286130 0.00027
NM_207361.6(FREM2):c.9009C>T (p.Val3003=) rs145657148 0.00026
NM_207361.6(FREM2):c.2180G>A (p.Arg727His) rs201714905 0.00021
NM_207361.6(FREM2):c.6669A>G (p.Gln2223=) rs114333791 0.00016
NM_207361.6(FREM2):c.5790G>A (p.Pro1930=) rs114346379 0.00015
NM_207361.6(FREM2):c.9337A>G (p.Thr3113Ala) rs202106776 0.00014
NM_207361.6(FREM2):c.6743-9C>T rs749834830 0.00013
NM_207361.6(FREM2):c.1647C>A (p.Phe549Leu) rs114341997 0.00012
NM_207361.6(FREM2):c.1737C>T (p.Ile579=) rs144811771 0.00012
NM_207361.6(FREM2):c.6333C>T (p.Gly2111=) rs116763572 0.00010
NM_207361.6(FREM2):c.532C>A (p.Gln178Lys) rs148774506 0.00008
NM_207361.6(FREM2):c.6272C>T (p.Ala2091Val) rs374178459 0.00007
NM_207361.6(FREM2):c.6807G>A (p.Ser2269=) rs752080876 0.00005
NM_207361.6(FREM2):c.2129G>A (p.Arg710His) rs372166899 0.00004
NM_207361.6(FREM2):c.8509C>T (p.Pro2837Ser) rs766715445 0.00004
NM_207361.6(FREM2):c.1250T>C (p.Leu417Pro) rs571694324 0.00003
NM_207361.6(FREM2):c.6499C>T (p.Arg2167Trp) rs114837786 0.00003
NM_207361.6(FREM2):c.6614A>G (p.Asp2205Gly) rs771744013 0.00003
NM_207361.6(FREM2):c.8176+2dup rs779126010 0.00003
NM_207361.6(FREM2):c.3296A>G (p.Asn1099Ser) rs374360439 0.00002
NM_207361.6(FREM2):c.5611G>A (p.Ala1871Thr) rs542257246 0.00002
NM_207361.6(FREM2):c.5138A>G (p.Asp1713Gly) rs778728471 0.00001
NM_207361.6(FREM2):c.7177G>A (p.Ala2393Thr) rs769767420 0.00001
NM_207361.6(FREM2):c.9407G>A (p.Arg3136Lys) rs142012270 0.00001
NM_207361.6(FREM2):c.1122T>A (p.Asp374Glu) rs578249359
NM_207361.6(FREM2):c.2062C>G (p.Arg688Gly) rs150928081
NM_207361.6(FREM2):c.2303C>G (p.Ser768Ter) rs2138066721
NM_207361.6(FREM2):c.2308G>A (p.Val770Met) rs7327915
NM_207361.6(FREM2):c.2900A>G (p.Asn967Ser)
NM_207361.6(FREM2):c.3035_3040dup (p.Gly1012_Ser1013dup) rs570476408
NM_207361.6(FREM2):c.3872C>T (p.Thr1291Met)
NM_207361.6(FREM2):c.437C>G (p.Pro146Arg) rs564740435
NM_207361.6(FREM2):c.5749G>A (p.Val1917Ile)
NM_207361.6(FREM2):c.5954dup (p.Met1985fs) rs886043213
NM_207361.6(FREM2):c.6674A>G (p.Asn2225Ser) rs143576067
NM_207361.6(FREM2):c.7002_7005del (p.Glu2335fs) rs768342700
NM_207361.6(FREM2):c.7329T>A (p.Pro2443=) rs1303270704
NM_207361.6(FREM2):c.7520-10_7520-9insCT rs1399473815
NM_207361.6(FREM2):c.850G>C (p.Val284Leu) rs770004356
NM_207361.6(FREM2):c.87GCT[8] (p.Leu38_Ser39insLeu) rs568736669

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