ClinVar Miner

List of variants reported as uncertain significance for Fraser syndrome 1 by Illumina Laboratory Services, Illumina

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 305
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HGVS dbSNP gnomAD frequency
NM_207361.5(FREM2):c.-285C>G rs573143355 0.00312
NM_025074.7(FRAS1):c.5374G>A (p.Ala1792Thr) rs150916370 0.00193
NM_025074.7(FRAS1):c.*938A>G rs559819253 0.00182
NM_025074.7(FRAS1):c.*1547C>G rs186398273 0.00155
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.641C>T (p.Pro214Leu) rs200053639 0.00108
NM_025074.7(FRAS1):c.8940A>G (p.Thr2980=) rs375788413 0.00102
NM_025074.7(FRAS1):c.3058C>T (p.Arg1020Cys) rs200292361 0.00099
NM_025074.7(FRAS1):c.527G>A (p.Arg176Gln) rs183328334 0.00096
NM_025074.7(FRAS1):c.2956G>A (p.Ala986Thr) rs111554790 0.00091
NM_025074.7(FRAS1):c.4159G>T (p.Ala1387Ser) rs200689785 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.*2490G>A rs186193838 0.00077
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_207361.6(FREM2):c.*5615_*5616insG rs886050216 0.00074
NM_025074.7(FRAS1):c.4634C>T (p.Pro1545Leu) rs201675499 0.00073
NM_025074.7(FRAS1):c.1783G>A (p.Gly595Ser) rs149843493 0.00070
NM_025074.7(FRAS1):c.9827T>C (p.Val3276Ala) rs78006948 0.00064
NM_025074.7(FRAS1):c.969G>A (p.Val323=) rs377333036 0.00063
NM_025074.7(FRAS1):c.2598C>T (p.Thr866=) rs149802708 0.00059
NM_025074.7(FRAS1):c.7223A>G (p.Asn2408Ser) rs201277074 0.00054
NM_025074.7(FRAS1):c.3010+9G>A rs148841455 0.00051
NM_025074.7(FRAS1):c.2345A>T (p.His782Leu) rs200056545 0.00048
NM_025074.7(FRAS1):c.9364C>T (p.Arg3122Trp) rs200346497 0.00046
NM_025074.7(FRAS1):c.4364C>T (p.Ala1455Val) rs201693179 0.00045
NM_025074.7(FRAS1):c.8443+8A>G rs373820698 0.00043
NM_025074.7(FRAS1):c.*1444T>C rs569011445 0.00042
NM_025074.7(FRAS1):c.*374C>T rs560026397 0.00042
NM_025074.7(FRAS1):c.9291G>A (p.Lys3097=) rs376458338 0.00041
NM_025074.7(FRAS1):c.*219T>C rs145739907 0.00039
NM_025074.7(FRAS1):c.9627C>T (p.Tyr3209=) rs377369857 0.00036
NM_025074.7(FRAS1):c.4346G>T (p.Ser1449Ile) rs201131604 0.00035
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.11637T>C (p.Asn3879=) rs147734882 0.00031
NM_025074.7(FRAS1):c.2027C>T (p.Pro676Leu) rs202043019 0.00029
NM_001366722.1(GRIP1):c.*85_*87dup rs553542220 0.00025
NM_025074.7(FRAS1):c.8341C>T (p.Arg2781Cys) rs190483418 0.00025
NM_025074.7(FRAS1):c.*1384C>T rs771590846 0.00022
NM_025074.7(FRAS1):c.*2261C>T rs886059654 0.00022
NM_025074.7(FRAS1):c.*880C>A rs886059649 0.00022
NM_025074.7(FRAS1):c.6932C>T (p.Ser2311Leu) rs202092409 0.00022
NM_025074.7(FRAS1):c.10724T>C (p.Ile3575Thr) rs202198985 0.00021
NM_025074.7(FRAS1):c.11811G>A (p.Lys3937=) rs373149321 0.00021
NM_025074.7(FRAS1):c.7238T>C (p.Ile2413Thr) rs199596557 0.00021
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.8985C>T (p.His2995=) rs201241555 0.00019
NM_025074.7(FRAS1):c.2647G>A (p.Val883Met) rs377068014 0.00017
NM_025074.7(FRAS1):c.6569C>T (p.Ser2190Phe) rs200166354 0.00017
NM_025074.7(FRAS1):c.4679-9C>T rs541669781 0.00016
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.11682G>A (p.Ala3894=) rs376389151 0.00015
NM_025074.7(FRAS1):c.1796C>T (p.Ala599Val) rs368186922 0.00015
NM_025074.7(FRAS1):c.6286C>T (p.Arg2096Cys) rs193229946 0.00014
NM_001366722.1(GRIP1):c.*1495_*1497dup rs553937765 0.00013
NM_025074.7(FRAS1):c.*1810C>T rs1029985381 0.00013
NM_025074.7(FRAS1):c.11895C>T (p.Asn3965=) rs372802938 0.00013
NM_025074.7(FRAS1):c.5039G>A (p.Arg1680Gln) rs201110914 0.00013
NM_207361.6(FREM2):c.*5552C>T rs886050214 0.00013
NM_025074.7(FRAS1):c.*460A>G rs760216437 0.00012
NM_025074.7(FRAS1):c.7522+12C>G rs188066525 0.00012
NM_025074.7(FRAS1):c.*1578T>C rs776119595 0.00011
NM_025074.7(FRAS1):c.*1787G>A rs549532188 0.00011
NM_025074.7(FRAS1):c.10041C>G (p.His3347Gln) rs552676865 0.00011
NM_207361.6(FREM2):c.*1666_*1667del rs534520921 0.00011
NM_025074.7(FRAS1):c.227T>G (p.Leu76Arg) rs199745197 0.00010
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.4737G>A (p.Pro1579=) rs373137263 0.00010
NM_025074.7(FRAS1):c.*2369C>T rs959327675 0.00009
NM_025074.7(FRAS1):c.*415A>G rs759045899 0.00009
NM_025074.7(FRAS1):c.*761A>G rs975095044 0.00009
NM_025074.7(FRAS1):c.2835G>A (p.Gln945=) rs137923783 0.00009
NM_025074.7(FRAS1):c.4682T>C (p.Leu1561Pro) rs376814395 0.00009
NM_025074.7(FRAS1):c.667G>A (p.Ala223Thr) rs200123398 0.00009
NM_025074.7(FRAS1):c.*2091T>C rs764203320 0.00007
NM_025074.7(FRAS1):c.*2957T>A rs553394027 0.00007
NM_025074.7(FRAS1):c.11302C>T (p.Arg3768Cys) rs750736066 0.00007
NM_025074.7(FRAS1):c.2846A>T (p.Asp949Val) rs202221840 0.00007
NM_025074.7(FRAS1):c.2939A>G (p.Tyr980Cys) rs570962669 0.00007
NM_025074.7(FRAS1):c.8010C>T (p.Thr2670=) rs370597256 0.00007
NM_025074.7(FRAS1):c.9163G>A (p.Ala3055Thr) rs375885501 0.00007
NM_025074.7(FRAS1):c.*1613C>T rs952918668 0.00006
NM_025074.7(FRAS1):c.10390-6C>T rs139412411 0.00006
NM_025074.7(FRAS1):c.10869G>A (p.Gln3623=) rs778772211 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.3567A>G (p.Lys1189=) rs778818485 0.00006
NM_025074.7(FRAS1):c.4367T>C (p.Ile1456Thr) rs560902495 0.00006
NM_025074.7(FRAS1):c.4678+5T>C rs76993002 0.00006
NM_025074.7(FRAS1):c.524G>A (p.Ser175Asn) rs772288910 0.00006
NM_025074.7(FRAS1):c.5756G>A (p.Ser1919Asn) rs763355889 0.00006
NM_025074.7(FRAS1):c.6622C>T (p.Leu2208=) rs373744776 0.00006
NM_025074.7(FRAS1):c.903G>A (p.Ser301=) rs373613705 0.00006
NM_025074.7(FRAS1):c.11681C>T (p.Ala3894Val) rs772941624 0.00005
NM_025074.7(FRAS1):c.1256-12C>T rs370606261 0.00005
NM_025074.7(FRAS1):c.8004C>T (p.Asn2668=) rs886059635 0.00005
NM_025074.7(FRAS1):c.8295G>A (p.Glu2765=) rs372900422 0.00005
NM_025074.7(FRAS1):c.8605-7C>T rs765550592 0.00005
NM_025074.7(FRAS1):c.885C>T (p.Asp295=) rs562224966 0.00005
NM_025074.7(FRAS1):c.9154C>T (p.Arg3052Trp) rs779931297 0.00005
NM_025074.7(FRAS1):c.*117C>T rs886059647 0.00004
NM_025074.7(FRAS1):c.*1741T>G rs772863115 0.00004
NM_025074.7(FRAS1):c.*2294G>A rs988779314 0.00004
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.10609C>T (p.Arg3537Cys) rs779521854 0.00004
NM_025074.7(FRAS1):c.10610G>A (p.Arg3537His) rs547089905 0.00004
NM_025074.7(FRAS1):c.11726C>T (p.Ala3909Val) rs367860092 0.00004
NM_025074.7(FRAS1):c.3649-9A>C rs763538373 0.00004
NM_025074.7(FRAS1):c.371G>A (p.Arg124Gln) rs200764508 0.00004
NM_025074.7(FRAS1):c.4255G>A (p.Val1419Ile) rs570825961 0.00004
NM_025074.7(FRAS1):c.5218-9C>T rs369761349 0.00004
NM_025074.7(FRAS1):c.5788A>G (p.Ile1930Val) rs373432682 0.00004
NM_025074.7(FRAS1):c.7722G>A (p.Thr2574=) rs569422992 0.00004
NM_025074.7(FRAS1):c.7923T>C (p.Asn2641=) rs765455808 0.00004
NM_025074.7(FRAS1):c.8460A>G (p.Pro2820=) rs200879198 0.00004
NM_025074.7(FRAS1):c.856T>A (p.Ser286Thr) rs189205642 0.00004
NM_025074.7(FRAS1):c.8613C>G (p.Thr2871=) rs758106272 0.00004
NM_025074.7(FRAS1):c.8705C>T (p.Thr2902Ile) rs757116242 0.00004
NM_025074.7(FRAS1):c.8725A>T (p.Ile2909Phe) rs367742749 0.00004
NM_025074.7(FRAS1):c.*1666G>A rs1374310535 0.00003
NM_025074.7(FRAS1):c.*1752T>C rs762849572 0.00003
NM_025074.7(FRAS1):c.*5G>A rs764066985 0.00003
NM_025074.7(FRAS1):c.*84A>G rs886059646 0.00003
NM_025074.7(FRAS1):c.*957G>C rs886059650 0.00003
NM_025074.7(FRAS1):c.-18G>T rs750662462 0.00003
NM_025074.7(FRAS1):c.-233A>T rs566584457 0.00003
NM_025074.7(FRAS1):c.11220G>A (p.Thr3740=) rs182887871 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.11925C>T (p.Asn3975=) rs368578398 0.00003
NM_025074.7(FRAS1):c.2328C>T (p.Cys776=) rs776037240 0.00003
NM_025074.7(FRAS1):c.2433C>T (p.His811=) rs756276943 0.00003
NM_025074.7(FRAS1):c.3152-10T>C rs776449329 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.5056A>C (p.Ile1686Leu) rs748832101 0.00003
NM_025074.7(FRAS1):c.6681C>G (p.Asp2227Glu) rs776374326 0.00003
NM_025074.7(FRAS1):c.6806G>A (p.Arg2269Gln) rs771923121 0.00003
NM_025074.7(FRAS1):c.8414A>G (p.Asn2805Ser) rs117838818 0.00003
NM_025074.7(FRAS1):c.8440G>A (p.Ala2814Thr) rs559602357 0.00003
NM_025074.7(FRAS1):c.8515C>T (p.Arg2839Trp) rs373073168 0.00003
NM_025074.7(FRAS1):c.9182C>T (p.Ala3061Val) rs886059637 0.00003
NM_025074.7(FRAS1):c.9505-4G>A rs367680303 0.00003
NM_025074.7(FRAS1):c.9658G>A (p.Gly3220Ser) rs552881646 0.00003
NM_207361.6(FREM2):c.*2458G>C rs886050203 0.00003
NM_025074.7(FRAS1):c.11815G>A (p.Ala3939Thr) rs375807410 0.00002
NM_025074.7(FRAS1):c.1250C>T (p.Thr417Ile) rs1727405834 0.00002
NM_025074.7(FRAS1):c.3157C>A (p.Pro1053Thr) rs139162588 0.00002
NM_025074.7(FRAS1):c.384A>G (p.Gln128=) rs566690413 0.00002
NM_025074.7(FRAS1):c.4555C>T (p.Arg1519Trp) rs761970312 0.00002
NM_025074.7(FRAS1):c.4557G>A (p.Arg1519=) rs773736914 0.00002
NM_025074.7(FRAS1):c.5516C>T (p.Ala1839Val) rs769089211 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.*1303G>A rs1167568461 0.00001
NM_025074.7(FRAS1):c.*1345C>T rs886059652 0.00001
NM_025074.7(FRAS1):c.*1698G>C rs1303968996 0.00001
NM_025074.7(FRAS1):c.*2028C>G rs1027128705 0.00001
NM_025074.7(FRAS1):c.*2223G>A rs1722113270 0.00001
NM_025074.7(FRAS1):c.*2512C>T rs886059656 0.00001
NM_025074.7(FRAS1):c.*2941A>T rs1259558413 0.00001
NM_025074.7(FRAS1):c.*2951A>T rs1722136952 0.00001
NM_025074.7(FRAS1):c.*319A>G rs1722048477 0.00001
NM_025074.7(FRAS1):c.*824T>G rs1218870035 0.00001
NM_025074.7(FRAS1):c.*926C>T rs1227739524 0.00001
NM_025074.7(FRAS1):c.-185G>T rs559206528 0.00001
NM_025074.7(FRAS1):c.-245C>G rs886059623 0.00001
NM_025074.7(FRAS1):c.10390-5G>A rs753366978 0.00001
NM_025074.7(FRAS1):c.10753G>A (p.Ala3585Thr) rs748159035 0.00001
NM_025074.7(FRAS1):c.11252G>A (p.Gly3751Glu) rs1484025134 0.00001
NM_025074.7(FRAS1):c.11299-8A>C rs368551584 0.00001
NM_025074.7(FRAS1):c.11559G>A (p.Arg3853=) rs989874672 0.00001
NM_025074.7(FRAS1):c.118A>C (p.Ile40Leu) rs751533644 0.00001
NM_025074.7(FRAS1):c.1270G>C (p.Asp424His) rs775737013 0.00001
NM_025074.7(FRAS1):c.1486G>T (p.Val496Leu) rs201490843 0.00001
NM_025074.7(FRAS1):c.1528T>C (p.Cys510Arg) rs141063284 0.00001
NM_025074.7(FRAS1):c.1905C>T (p.Gly635=) rs1406270521 0.00001
NM_025074.7(FRAS1):c.1914G>A (p.Leu638=) rs778155926 0.00001
NM_025074.7(FRAS1):c.195C>T (p.Asn65=) rs200429476 0.00001
NM_025074.7(FRAS1):c.2870-5T>C rs768834170 0.00001
NM_025074.7(FRAS1):c.3048T>C (p.His1016=) rs886059631 0.00001
NM_025074.7(FRAS1):c.3529A>C (p.Lys1177Gln) rs769982793 0.00001
NM_025074.7(FRAS1):c.446G>A (p.Cys149Tyr) rs769003850 0.00001
NM_025074.7(FRAS1):c.4578C>G (p.Ile1526Met) rs757959583 0.00001
NM_025074.7(FRAS1):c.4580G>A (p.Arg1527Gln) rs566595838 0.00001
NM_025074.7(FRAS1):c.47A>C (p.Glu16Ala) rs554995505 0.00001
NM_025074.7(FRAS1):c.6684G>A (p.Gln2228=) rs759150629 0.00001
NM_025074.7(FRAS1):c.6726G>A (p.Gln2242=) rs761562615 0.00001
NM_025074.7(FRAS1):c.6727C>T (p.Pro2243Ser) rs764783509 0.00001
NM_025074.7(FRAS1):c.7085G>A (p.Arg2362Gln) rs865839705 0.00001
NM_025074.7(FRAS1):c.7551T>A (p.Tyr2517Ter) rs745597204 0.00001
NM_025074.7(FRAS1):c.8125A>G (p.Ile2709Val) rs762129626 0.00001
NM_025074.7(FRAS1):c.8535T>A (p.Ser2845=) rs773905369 0.00001
NM_025074.7(FRAS1):c.8556C>T (p.Tyr2852=) rs778885038 0.00001
NM_025074.7(FRAS1):c.8643G>A (p.Pro2881=) rs749014065 0.00001
NM_025074.7(FRAS1):c.8844C>T (p.Ser2948=) rs778096225 0.00001
NM_025074.7(FRAS1):c.9538G>A (p.Glu3180Lys) rs369950838 0.00001
NM_025074.7(FRAS1):c.9541G>A (p.Val3181Ile) rs1464507728 0.00001
NM_025074.7(FRAS1):c.9607G>A (p.Asp3203Asn) rs540286890 0.00001
NM_025074.7(FRAS1):c.9630T>C (p.Ala3210=) rs761161131 0.00001
NM_001366722.1(GRIP1):c.*1261dup rs35499444
NM_001366722.1(GRIP1):c.*1388_*1390dup rs886049789
NM_001366722.1(GRIP1):c.*1422_*1426del rs886049788
NM_001366722.1(GRIP1):c.*1548_*1551dup rs886049787
NM_001366722.1(GRIP1):c.*1559dup rs886049786
NM_001366722.1(GRIP1):c.*679dup rs367709432
NM_001366722.1(GRIP1):c.*723_*725dup rs886049794
NM_001366722.1(GRIP1):c.*735_*738dup rs551666983
NM_001366722.1(GRIP1):c.*752TAT[3] rs148302164
NM_001366722.1(GRIP1):c.*753_*757del rs886049793
NM_001366722.1(GRIP1):c.2361G>A (p.Lys787=) rs886049797
NM_025074.7(FRAS1):c.*1210G>A rs886059651
NM_025074.7(FRAS1):c.*122C>T rs886059648
NM_025074.7(FRAS1):c.*1616C>T rs1722098731
NM_025074.7(FRAS1):c.*1669A>C rs886059653
NM_025074.7(FRAS1):c.*221G>A rs748263373
NM_025074.7(FRAS1):c.*2350C>T rs886059655
NM_025074.7(FRAS1):c.*455C>T rs774956318
NM_025074.7(FRAS1):c.*530G>A rs544866402
NM_025074.7(FRAS1):c.*893C>G rs563929109
NM_025074.7(FRAS1):c.*897T>G rs1722072306
NM_025074.7(FRAS1):c.*985G>A rs1722075087
NM_025074.7(FRAS1):c.-188C>T rs886059624
NM_025074.7(FRAS1):c.-422C>G rs886059622
NM_025074.7(FRAS1):c.10014-14del rs779194826
NM_025074.7(FRAS1):c.10174+1G>A rs1560420794
NM_025074.7(FRAS1):c.10299C>A (p.Asn3433Lys) rs377102088
NM_025074.7(FRAS1):c.10442C>T (p.Ser3481Phe) rs886059640
NM_025074.7(FRAS1):c.10648+13C>A rs886059641
NM_025074.7(FRAS1):c.10648+24_10648+25del rs397994139
NM_025074.7(FRAS1):c.10689A>T (p.Lys3563Asn) rs886059643
NM_025074.7(FRAS1):c.10743A>G (p.Leu3581=) rs886059644
NM_025074.7(FRAS1):c.10809-11C>T rs1721539751
NM_025074.7(FRAS1):c.10809-12G>T rs886059645
NM_025074.7(FRAS1):c.1087A>G (p.Ser363Gly) rs1404338156
NM_025074.7(FRAS1):c.11111G>A (p.Arg3704Gln) rs141843124
NM_025074.7(FRAS1):c.11237A>C (p.Glu3746Ala) rs1721910256
NM_025074.7(FRAS1):c.11475G>C (p.Gln3825His) rs1722015455
NM_025074.7(FRAS1):c.11510G>C (p.Gly3837Ala) rs1722017063
NM_025074.7(FRAS1):c.11589C>T (p.Ile3863=) rs763508870
NM_025074.7(FRAS1):c.1186T>C (p.Cys396Arg) rs138103912
NM_025074.7(FRAS1):c.1371T>C (p.Gly457=) rs746772122
NM_025074.7(FRAS1):c.1598A>T (p.Asp533Val) rs886059629
NM_025074.7(FRAS1):c.1650C>A (p.Gly550=) rs1728870513
NM_025074.7(FRAS1):c.1722G>T (p.Arg574Ser) rs886059630
NM_025074.7(FRAS1):c.1820-11C>T rs117925872
NM_025074.7(FRAS1):c.1848T>C (p.Ser616=) rs878902352
NM_025074.7(FRAS1):c.1885C>G (p.Pro629Ala) rs765144262
NM_025074.7(FRAS1):c.2137G>C (p.Ala713Pro) rs369605412
NM_025074.7(FRAS1):c.2375C>A (p.Thr792Asn) rs1037965937
NM_025074.7(FRAS1):c.2818G>C (p.Glu940Gln) rs573458782
NM_025074.7(FRAS1):c.2934T>G (p.Asp978Glu) rs1466526912
NM_025074.7(FRAS1):c.2935G>T (p.Gly979Cys) rs538621809
NM_025074.7(FRAS1):c.3128A>G (p.Asp1043Gly) rs886059632
NM_025074.7(FRAS1):c.3286T>C (p.Cys1096Arg) rs765732994
NM_025074.7(FRAS1):c.3648+12G>A rs764016097
NM_025074.7(FRAS1):c.3824C>G (p.Pro1275Arg) rs1732266097
NM_025074.7(FRAS1):c.3873T>C (p.Tyr1291=) rs1732268531
NM_025074.7(FRAS1):c.4009A>G (p.Met1337Val) rs765572525
NM_025074.7(FRAS1):c.4019T>C (p.Val1340Ala) rs1578299894
NM_025074.7(FRAS1):c.4874C>T (p.Thr1625Ile) rs770386832
NM_025074.7(FRAS1):c.5034T>C (p.Ser1678=) rs1329723132
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.5670T>C (p.Asp1890=) rs1718788319
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.5865C>T (p.Asn1955=) rs201750748
NM_025074.7(FRAS1):c.604-11T>A rs886059626
NM_025074.7(FRAS1):c.7035G>A (p.Glu2345=) rs886059633
NM_025074.7(FRAS1):c.7219A>T (p.Thr2407Ser) rs886059634
NM_025074.7(FRAS1):c.7422C>A (p.Thr2474=) rs759674249
NM_025074.7(FRAS1):c.76+5G>A rs886059625
NM_025074.7(FRAS1):c.763G>A (p.Ala255Thr) rs886059627
NM_025074.7(FRAS1):c.77-9T>C rs1740016134
NM_025074.7(FRAS1):c.8002A>G (p.Asn2668Asp) rs760944447
NM_025074.7(FRAS1):c.826G>A (p.Glu276Lys) rs886059628
NM_025074.7(FRAS1):c.8329T>C (p.Ser2777Pro) rs773401610
NM_025074.7(FRAS1):c.8440G>T (p.Ala2814Ser) rs559602357
NM_025074.7(FRAS1):c.8441C>T (p.Ala2814Val) rs886059636
NM_025074.7(FRAS1):c.8444-15T>C rs373332959
NM_025074.7(FRAS1):c.8846A>T (p.Tyr2949Phe) rs200212920
NM_025074.7(FRAS1):c.9111A>G (p.Glu3037=) rs1720523467
NM_025074.7(FRAS1):c.9161C>G (p.Pro3054Arg) rs754878371
NM_025074.7(FRAS1):c.9478A>G (p.Ser3160Gly) rs763114326
NM_025074.7(FRAS1):c.9602C>T (p.Pro3201Leu) rs886059638
NM_025074.7(FRAS1):c.9621del (p.Arg3208fs) rs1560418388
NM_207361.6(FREM2):c.*1897CCTTT[3] rs886050201
NM_207361.6(FREM2):c.*3718A>G rs886050208
NM_207361.6(FREM2):c.*5530TTG[1] rs886050212
NM_207361.6(FREM2):c.*5552CA[6] rs886050213
NM_207361.6(FREM2):c.*5590TA[6] rs34936389
NM_207361.6(FREM2):c.*5600GA[7] rs5802960
NM_207361.6(FREM2):c.*5870del rs886050220
NM_207361.6(FREM2):c.*6148_*6151del rs886050221
NM_207361.6(FREM2):c.135G>T (p.Pro45=) rs886050186

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