ClinVar Miner

Variants in gene FRAS1 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
2272 218 0 76 58 0 4 124

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 3 0 0
likely pathogenic 10 0 2 0 0
uncertain significance 3 2 0 56 13
likely benign 0 0 56 0 66
benign 0 0 13 66 0

All variants with conflicting interpretations #

Total variants: 124
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_025074.7(FRAS1):c.2450C>T (p.Ala817Val) rs6835769 0.43382
NM_025074.7(FRAS1):c.3151+14_3151+15dup rs398092530 0.38519
NM_025074.7(FRAS1):c.308A>T (p.Glu103Val) rs78711748 0.01459
NM_025074.7(FRAS1):c.979C>T (p.Arg327Trp) rs61999335 0.01454
NM_025074.7(FRAS1):c.11717T>C (p.Ile3906Thr) rs61748814 0.01397
NM_025074.7(FRAS1):c.8417C>T (p.Thr2806Met) rs114190041 0.01251
NM_025074.7(FRAS1):c.10230C>T (p.Tyr3410=) rs34034599 0.01250
NM_025074.7(FRAS1):c.9955C>G (p.Gln3319Glu) rs78619145 0.01249
NM_025074.7(FRAS1):c.1769T>C (p.Met590Thr) rs35030041 0.01189
NM_025074.7(FRAS1):c.1416C>T (p.Cys472=) rs35690113 0.01114
NM_025074.7(FRAS1):c.3951G>A (p.Leu1317=) rs76107832 0.01090
NM_025074.7(FRAS1):c.518G>A (p.Arg173Gln) rs147332320 0.00963
NM_025074.7(FRAS1):c.4940C>T (p.Thr1647Ile) rs34271211 0.00909
NM_025074.7(FRAS1):c.1710C>T (p.Pro570=) rs17003124 0.00783
NM_025074.7(FRAS1):c.9806G>A (p.Arg3269Gln) rs61729366 0.00592
NM_025074.7(FRAS1):c.2575+20A>C rs80008695 0.00511
NM_025074.7(FRAS1):c.9853C>T (p.His3285Tyr) rs182196851 0.00436
NM_025074.7(FRAS1):c.8215G>A (p.Ala2739Thr) rs192476468 0.00426
NM_025074.7(FRAS1):c.5665+18A>T rs140398472 0.00387
NM_025074.7(FRAS1):c.10160T>C (p.Leu3387Pro) rs137982616 0.00365
NM_025074.7(FRAS1):c.776T>G (p.Leu259Arg) rs148509395 0.00356
NM_025074.7(FRAS1):c.11227A>G (p.Ile3743Val) rs35370270 0.00355
NM_025074.7(FRAS1):c.5046C>G (p.Asp1682Glu) rs35219594 0.00344
NM_025074.7(FRAS1):c.806G>A (p.Arg269Gln) rs202231425 0.00313
NM_025074.7(FRAS1):c.6301C>T (p.His2101Tyr) rs183398121 0.00302
NM_025074.7(FRAS1):c.8832C>T (p.Ser2944=) rs114854941 0.00296
NM_025074.7(FRAS1):c.6584A>G (p.Glu2195Gly) rs10029227 0.00285
NM_025074.7(FRAS1):c.11907C>G (p.His3969Gln) rs140492803 0.00272
NM_025074.7(FRAS1):c.4648C>T (p.Leu1550Phe) rs148663672 0.00269
NM_025074.7(FRAS1):c.4579C>T (p.Arg1527Trp) rs1872267 0.00253
NM_025074.7(FRAS1):c.2861C>T (p.Thr954Met) rs17003166 0.00252
NM_025074.7(FRAS1):c.7033G>A (p.Glu2345Lys) rs56291926 0.00241
NM_025074.7(FRAS1):c.11605A>G (p.Ile3869Val) rs145035489 0.00236
NM_025074.7(FRAS1):c.10594A>G (p.Ile3532Val) rs144715071 0.00232
NM_025074.7(FRAS1):c.9553G>A (p.Gly3185Arg) rs202095663 0.00230
NM_025074.7(FRAS1):c.4969+9A>C rs147019759 0.00213
NM_025074.7(FRAS1):c.5374G>A (p.Ala1792Thr) rs150916370 0.00193
NM_025074.7(FRAS1):c.8973G>A (p.Thr2991=) rs187612429 0.00175
NM_025074.7(FRAS1):c.7622A>G (p.Asn2541Ser) rs144530996 0.00170
NM_025074.7(FRAS1):c.7652A>G (p.Gln2551Arg) rs183712679 0.00169
NM_025074.7(FRAS1):c.7029+7G>A rs183687186 0.00159
NM_025074.7(FRAS1):c.5947C>T (p.Leu1983=) rs74893124 0.00142
NM_025074.7(FRAS1):c.789+12T>G rs142206350 0.00142
NM_025074.7(FRAS1):c.4958C>T (p.Pro1653Leu) rs6813102 0.00134
NM_025074.7(FRAS1):c.11264C>T (p.Pro3755Leu) rs199510509 0.00133
NM_025074.7(FRAS1):c.7039G>T (p.Val2347Phe) rs201369510 0.00131
NM_025074.7(FRAS1):c.4815G>A (p.Ala1605=) rs201188262 0.00122
NM_025074.7(FRAS1):c.108+10T>G rs76831011 0.00115
NM_025074.7(FRAS1):c.4959G>A (p.Pro1653=) rs372154997 0.00112
NM_025074.7(FRAS1):c.641C>T (p.Pro214Leu) rs200053639 0.00108
NM_025074.7(FRAS1):c.10237C>T (p.Pro3413Ser) rs189612722 0.00101
NM_025074.7(FRAS1):c.9228C>T (p.Thr3076=) rs369529123 0.00099
NM_025074.7(FRAS1):c.10539A>G (p.Thr3513=) rs199921300 0.00098
NM_025074.7(FRAS1):c.2956G>A (p.Ala986Thr) rs111554790 0.00091
NM_025074.7(FRAS1):c.4160C>T (p.Ala1387Val) rs201864889 0.00091
NM_025074.7(FRAS1):c.4095C>T (p.Ile1365=) rs79869130 0.00088
NM_025074.7(FRAS1):c.9446C>T (p.Thr3149Met) rs150680111 0.00080
NM_025074.7(FRAS1):c.1918C>T (p.Arg640Cys) rs147869493 0.00074
NM_025074.7(FRAS1):c.886G>A (p.Glu296Lys) rs186811333 0.00074
NM_025074.7(FRAS1):c.4634C>T (p.Pro1545Leu) rs201675499 0.00073
NM_025074.7(FRAS1):c.9296G>A (p.Arg3099Gln) rs149692526 0.00071
NM_025074.7(FRAS1):c.1783G>A (p.Gly595Ser) rs149843493 0.00070
NM_025074.7(FRAS1):c.969G>A (p.Val323=) rs377333036 0.00063
NM_025074.7(FRAS1):c.11306A>G (p.Asn3769Ser) rs112039037 0.00053
NM_025074.7(FRAS1):c.6939C>T (p.Pro2313=) rs150936204 0.00052
NM_025074.7(FRAS1):c.3010+9G>A rs148841455 0.00051
NM_025074.7(FRAS1):c.5725G>A (p.Val1909Ile) rs182652779 0.00049
NM_025074.7(FRAS1):c.9364C>T (p.Arg3122Trp) rs200346497 0.00046
NM_025074.7(FRAS1):c.10077G>A (p.Pro3359=) rs183724131 0.00045
NM_025074.7(FRAS1):c.9627C>T (p.Tyr3209=) rs377369857 0.00036
NM_025074.7(FRAS1):c.4334C>T (p.Thr1445Ile) rs200123789 0.00034
NM_025074.7(FRAS1):c.1635C>T (p.Ser545=) rs528765554 0.00022
NM_025074.7(FRAS1):c.6530T>C (p.Val2177Ala) rs76345011 0.00020
NM_025074.7(FRAS1):c.10234C>T (p.Arg3412Cys) rs187826477 0.00017
NM_025074.7(FRAS1):c.4032G>T (p.Gly1344=) rs371941648 0.00017
NM_025074.7(FRAS1):c.6569C>T (p.Ser2190Phe) rs200166354 0.00017
NM_025074.7(FRAS1):c.990A>G (p.Glu330=) rs374045395 0.00017
NM_025074.7(FRAS1):c.4308+10G>T rs146718957 0.00016
NM_025074.7(FRAS1):c.9356A>G (p.Asn3119Ser) rs191105001 0.00016
NM_025074.7(FRAS1):c.6286C>T (p.Arg2096Cys) rs193229946 0.00014
NM_025074.7(FRAS1):c.10128C>T (p.His3376=) rs369331788 0.00013
NM_025074.7(FRAS1):c.10008G>A (p.Pro3336=) rs76120498 0.00012
NM_025074.7(FRAS1):c.10389G>A (p.Gln3463=) rs757163658 0.00012
NM_025074.7(FRAS1):c.1255+10T>C rs540508144 0.00012
NM_025074.7(FRAS1):c.2862G>A (p.Thr954=) rs144065807 0.00012
NM_025074.7(FRAS1):c.1535-4G>A rs749569960 0.00011
NM_025074.7(FRAS1):c.237T>C (p.Ala79=) rs370345916 0.00010
NM_025074.7(FRAS1):c.4181G>C (p.Gly1394Ala) rs376487875 0.00010
NM_025074.7(FRAS1):c.4729A>T (p.Thr1577Ser) rs183594682 0.00010
NM_025074.7(FRAS1):c.10425C>T (p.His3475=) rs376096303 0.00009
NM_025074.7(FRAS1):c.2835G>A (p.Gln945=) rs137923783 0.00009
NM_025074.7(FRAS1):c.1503C>T (p.Asp501=) rs370655417 0.00008
NM_025074.7(FRAS1):c.1072-5C>T rs570183677 0.00006
NM_025074.7(FRAS1):c.39G>A (p.Ala13=) rs773457837 0.00006
NM_025074.7(FRAS1):c.4455G>T (p.Gln1485His) rs532738580 0.00006
NM_025074.7(FRAS1):c.4807C>T (p.Arg1603Trp) rs961911715 0.00005
NM_025074.7(FRAS1):c.4843+2T>C rs370018000 0.00004
NM_025074.7(FRAS1):c.5218-9C>T rs369761349 0.00004
NM_025074.7(FRAS1):c.9450G>T (p.Val3150=) rs372168929 0.00004
NM_025074.7(FRAS1):c.10261C>T (p.Arg3421Ter) rs201947516 0.00003
NM_025074.7(FRAS1):c.8752+9T>C rs191984935 0.00003
NM_025074.7(FRAS1):c.11695C>T (p.Leu3899=) rs367723684 0.00002
NM_025074.7(FRAS1):c.2719C>T (p.Gln907Ter) rs755750961 0.00001
NM_025074.7(FRAS1):c.2722+1G>A rs794727365 0.00001
NM_025074.7(FRAS1):c.4098C>T (p.Ile1366=) rs1027609786 0.00001
NM_025074.7(FRAS1):c.4259G>A (p.Trp1420Ter) rs753263924 0.00001
NM_025074.7(FRAS1):c.6010G>A (p.Gly2004Ser) rs771251344 0.00001
NM_025074.7(FRAS1):c.6876T>C (p.Asp2292=) rs779794904 0.00001
NM_025074.7(FRAS1):c.8131T>C (p.Tyr2711His) rs541053205 0.00001
NM_025074.7(FRAS1):c.109-15del rs548267943
NM_025074.7(FRAS1):c.11274C>A (p.His3758Gln)
NM_025074.7(FRAS1):c.11544del (p.Arg3849fs) rs776789412
NM_025074.7(FRAS1):c.2571del (p.Ala856_Cys857insTer) rs1560681144
NM_025074.7(FRAS1):c.3514G>A (p.Asp1172Asn)
NM_025074.7(FRAS1):c.4183C>T (p.Gln1395Ter) rs1733155852
NM_025074.7(FRAS1):c.4365G>C (p.Ala1455=) rs375417798
NM_025074.7(FRAS1):c.5125C>T (p.Arg1709Ter) rs775517752
NM_025074.7(FRAS1):c.5419_5424del (p.Phe1807_Ser1808del) rs730882178
NM_025074.7(FRAS1):c.5474T>G (p.Met1825Arg) rs200477457
NM_025074.7(FRAS1):c.6009C>T (p.His2003=)
NM_025074.7(FRAS1):c.6433C>T (p.Arg2145Ter) rs756005814
NM_025074.7(FRAS1):c.7029+9A>C rs188606284
NM_025074.7(FRAS1):c.8283C>T (p.Ser2761=)
NM_025074.7(FRAS1):c.8353del (p.Val2785fs)

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