ClinVar Miner

List of variants reported as uncertain significance for Fraser syndrome 1 by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 97
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_025074.7(FRAS1):c.4648C>T (p.Leu1550Phe) rs148663672 0.00269
NM_025074.7(FRAS1):c.11264C>T (p.Pro3755Leu) rs199510509 0.00133
NM_025074.7(FRAS1):c.11306A>G (p.Asn3769Ser) rs112039037 0.00053
NM_025074.7(FRAS1):c.7163G>A (p.Ser2388Asn) rs77601278 0.00050
NM_025074.7(FRAS1):c.2345A>T (p.His782Leu) rs200056545 0.00048
NM_025074.7(FRAS1):c.7451C>T (p.Thr2484Met) rs200888184 0.00035
NM_025074.7(FRAS1):c.706G>A (p.Glu236Lys) rs373994193 0.00032
NM_025074.7(FRAS1):c.10231G>A (p.Asp3411Asn) rs200203389 0.00027
NM_025074.7(FRAS1):c.4982C>A (p.Thr1661Asn) rs373074293 0.00026
NM_025074.7(FRAS1):c.8341C>T (p.Arg2781Cys) rs190483418 0.00025
NM_025074.7(FRAS1):c.2132G>A (p.Cys711Tyr) rs201740573 0.00019
NM_025074.7(FRAS1):c.395C>T (p.Pro132Leu) rs376122558 0.00019
NM_025074.7(FRAS1):c.1477G>A (p.Gly493Arg) rs376808560 0.00018
NM_025074.7(FRAS1):c.3963G>C (p.Lys1321Asn) rs370629874 0.00018
NM_025074.7(FRAS1):c.809G>A (p.Arg270His) rs374688692 0.00016
NM_025074.7(FRAS1):c.10249G>A (p.Asp3417Asn) rs373601771 0.00015
NM_025074.7(FRAS1):c.6286C>T (p.Arg2096Cys) rs193229946 0.00014
NM_025074.7(FRAS1):c.5039G>A (p.Arg1680Gln) rs201110914 0.00013
NM_025074.7(FRAS1):c.9375T>A (p.His3125Gln) rs370907958 0.00013
NM_025074.7(FRAS1):c.10389G>A (p.Gln3463=) rs757163658 0.00012
NM_025074.7(FRAS1):c.2962G>A (p.Val988Met) rs368228939 0.00011
NM_025074.7(FRAS1):c.227T>G (p.Leu76Arg) rs199745197 0.00010
NM_025074.7(FRAS1):c.4181G>C (p.Gly1394Ala) rs376487875 0.00010
NM_025074.7(FRAS1):c.4682T>C (p.Leu1561Pro) rs376814395 0.00009
NM_025074.7(FRAS1):c.11302C>T (p.Arg3768Cys) rs750736066 0.00007
NM_025074.7(FRAS1):c.1177G>A (p.Glu393Lys) rs376133490 0.00007
NM_025074.7(FRAS1):c.2846A>T (p.Asp949Val) rs202221840 0.00007
NM_025074.7(FRAS1):c.7067G>A (p.Arg2356His) rs377717035 0.00007
NM_025074.7(FRAS1):c.9163G>A (p.Ala3055Thr) rs375885501 0.00007
NM_025074.7(FRAS1):c.10129G>A (p.Val3377Ile) rs573489939 0.00006
NM_025074.7(FRAS1):c.11690C>T (p.Ala3897Val) rs373595232 0.00006
NM_025074.7(FRAS1):c.11902A>G (p.Arg3968Gly) rs550166836 0.00006
NM_025074.7(FRAS1):c.1609G>A (p.Val537Met) rs367598897 0.00006
NM_025074.7(FRAS1):c.2515G>A (p.Gly839Arg) rs199918192 0.00006
NM_025074.7(FRAS1):c.2803G>C (p.Gly935Arg) rs200113218 0.00006
NM_025074.7(FRAS1):c.11681C>T (p.Ala3894Val) rs772941624 0.00005
NM_025074.7(FRAS1):c.6002C>T (p.Pro2001Leu) rs778174997 0.00005
NM_025074.7(FRAS1):c.808C>T (p.Arg270Cys) rs773283272 0.00005
NM_025074.7(FRAS1):c.9154C>T (p.Arg3052Trp) rs779931297 0.00005
NM_025074.7(FRAS1):c.10091A>G (p.His3364Arg) rs922004210 0.00004
NM_025074.7(FRAS1):c.10166G>C (p.Gly3389Ala) rs745919146 0.00004
NM_025074.7(FRAS1):c.10418C>T (p.Thr3473Ile) rs746290270 0.00004
NM_025074.7(FRAS1):c.10609C>T (p.Arg3537Cys) rs779521854 0.00004
NM_025074.7(FRAS1):c.2054T>G (p.Leu685Arg) rs767882606 0.00004
NM_025074.7(FRAS1):c.5027G>A (p.Gly1676Asp) rs1197038878 0.00004
NM_025074.7(FRAS1):c.517C>T (p.Arg173Trp) rs767674052 0.00004
NM_025074.7(FRAS1):c.5788A>G (p.Ile1930Val) rs373432682 0.00004
NM_025074.7(FRAS1):c.847G>A (p.Gly283Arg) rs752345568 0.00004
NM_025074.7(FRAS1):c.856T>A (p.Ser286Thr) rs189205642 0.00004
NM_025074.7(FRAS1):c.8642C>T (p.Pro2881Leu) rs779660887 0.00004
NM_025074.7(FRAS1):c.-18G>T rs750662462 0.00003
NM_025074.7(FRAS1):c.11882G>A (p.Arg3961Gln) rs370319615 0.00003
NM_025074.7(FRAS1):c.11920C>T (p.Arg3974Trp) rs759074187 0.00003
NM_025074.7(FRAS1):c.3986G>A (p.Gly1329Asp) rs375515578 0.00003
NM_025074.7(FRAS1):c.4808G>A (p.Arg1603Gln) rs772059263 0.00003
NM_025074.7(FRAS1):c.5006C>T (p.Ala1669Val) rs774087208 0.00003
NM_025074.7(FRAS1):c.5128G>A (p.Gly1710Arg) rs997260986 0.00003
NM_025074.7(FRAS1):c.6806G>A (p.Arg2269Gln) rs771923121 0.00003
NM_025074.7(FRAS1):c.7030-6G>A rs771012779 0.00003
NM_025074.7(FRAS1):c.8752+9T>C rs191984935 0.00003
NM_025074.7(FRAS1):c.8827C>T (p.Arg2943Trp) rs751338045 0.00003
NM_025074.7(FRAS1):c.9182C>T (p.Ala3061Val) rs886059637 0.00003
NM_025074.7(FRAS1):c.10587A>C (p.Arg3529Ser) rs775451018 0.00002
NM_025074.7(FRAS1):c.3157C>A (p.Pro1053Thr) rs139162588 0.00002
NM_025074.7(FRAS1):c.3191G>T (p.Arg1064Leu) rs779286671 0.00002
NM_025074.7(FRAS1):c.7441T>A (p.Tyr2481Asn) rs148042277 0.00002
NM_025074.7(FRAS1):c.7573C>T (p.Arg2525Cys) rs376675521 0.00002
NM_025074.7(FRAS1):c.8958+4A>G rs368613886 0.00002
NM_025074.7(FRAS1):c.9724C>T (p.Arg3242Trp) rs765238008 0.00002
NM_025074.7(FRAS1):c.10753G>A (p.Ala3585Thr) rs748159035 0.00001
NM_025074.7(FRAS1):c.10960C>T (p.Arg3654Cys) rs755221317 0.00001
NM_025074.7(FRAS1):c.11775T>A (p.Phe3925Leu) rs368792355 0.00001
NM_025074.7(FRAS1):c.1472G>A (p.Arg491Gln) rs369973948 0.00001
NM_025074.7(FRAS1):c.1897C>T (p.Arg633Cys) rs370349229 0.00001
NM_025074.7(FRAS1):c.2423A>G (p.Asp808Gly) rs781560608 0.00001
NM_025074.7(FRAS1):c.3523G>A (p.Glu1175Lys) rs746130442 0.00001
NM_025074.7(FRAS1):c.4580G>A (p.Arg1527Gln) rs566595838 0.00001
NM_025074.7(FRAS1):c.5939C>T (p.Ser1980Phe) rs762464811 0.00001
NM_025074.7(FRAS1):c.6496C>A (p.Pro2166Thr) rs767095340 0.00001
NM_025074.7(FRAS1):c.7030-3C>G rs1254762800 0.00001
NM_025074.7(FRAS1):c.7085G>A (p.Arg2362Gln) rs865839705 0.00001
NM_025074.7(FRAS1):c.7696G>A (p.Glu2566Lys) rs1719826004 0.00001
NM_025074.7(FRAS1):c.805C>T (p.Arg269Trp) rs367972398 0.00001
NM_025074.7(FRAS1):c.8833G>A (p.Gly2945Arg) rs771808832 0.00001
NM_025074.7(FRAS1):c.10299C>A (p.Asn3433Lys) rs377102088
NM_025074.7(FRAS1):c.10906A>C (p.Thr3636Pro) rs1399050730
NM_025074.7(FRAS1):c.109G>A (p.Asp37Asn) rs2110114875
NM_025074.7(FRAS1):c.11111G>A (p.Arg3704Gln) rs141843124
NM_025074.7(FRAS1):c.1882C>A (p.Pro628Thr) rs199542867
NM_025074.7(FRAS1):c.2137G>A (p.Ala713Thr) rs369605412
NM_025074.7(FRAS1):c.2891C>T (p.Ala964Val) rs1704836684
NM_025074.7(FRAS1):c.3190C>T (p.Arg1064Cys) rs375063448
NM_025074.7(FRAS1):c.4874C>T (p.Thr1625Ile) rs770386832
NM_025074.7(FRAS1):c.585G>T (p.Gln195His) rs930940115
NM_025074.7(FRAS1):c.5862G>T (p.Lys1954Asn) rs200547348
NM_025074.7(FRAS1):c.8846A>T (p.Tyr2949Phe) rs200212920
NM_025074.7(FRAS1):c.9161C>G (p.Pro3054Arg) rs754878371

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.