ClinVar Miner

List of variants reported as likely benign for Fraser syndrome 1 by Illumina Laboratory Services, Illumina

Included ClinVar conditions (1):
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ClinVar version:
Total variants: 54
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HGVS dbSNP gnomAD frequency
NM_025074.7(FRAS1):c.*2931del rs139811866 0.03677
NM_001366722.1(GRIP1):c.*655_*657dup rs138816960 0.01583
NM_025074.7(FRAS1):c.*2672A>G rs144020017 0.01027
NM_025074.7(FRAS1):c.9806G>A (p.Arg3269Gln) rs61729366 0.00592
NM_025074.7(FRAS1):c.776T>G (p.Leu259Arg) rs148509395 0.00356
NM_025074.7(FRAS1):c.5046C>G (p.Asp1682Glu) rs35219594 0.00344
NM_025074.7(FRAS1):c.*3142G>T rs183140136 0.00334
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_207361.6(FREM2):c.*2390_*2392del rs149897768 0.00283
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.11724T>C (p.Ser3908=) rs151307846 0.00264
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.11718T>C (p.Ile3906=) rs142389362 0.00240
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.201A>G (p.Gln67=) rs117876433 0.00210
NM_025074.7(FRAS1):c.7622A>G (p.Asn2541Ser) rs144530996 0.00170
NM_025074.7(FRAS1):c.7029+7G>A rs183687186 0.00159
NM_025074.7(FRAS1):c.*2324G>A rs186095111 0.00125
NM_025074.7(FRAS1):c.4815G>A (p.Ala1605=) rs201188262 0.00122
NM_025074.7(FRAS1):c.4959G>A (p.Pro1653=) rs372154997 0.00112
NM_025074.7(FRAS1):c.6763+12A>G rs185282133 0.00105
NM_025074.7(FRAS1):c.10539A>G (p.Thr3513=) rs199921300 0.00098
NM_025074.7(FRAS1):c.9446C>T (p.Thr3149Met) rs150680111 0.00080
NM_025074.7(FRAS1):c.9296G>A (p.Arg3099Gln) rs149692526 0.00071
NM_025074.7(FRAS1):c.8574G>A (p.Lys2858=) rs201745281 0.00070
NM_025074.7(FRAS1):c.6939C>T (p.Pro2313=) rs150936204 0.00052
NM_025074.7(FRAS1):c.10077G>A (p.Pro3359=) rs183724131 0.00045
NM_025074.7(FRAS1):c.1820-11C>G rs117925872 0.00034
NM_025074.7(FRAS1):c.3065A>C (p.Lys1022Thr) rs201252328 0.00025
NM_025074.7(FRAS1):c.1635C>T (p.Ser545=) rs528765554 0.00022
NM_025074.7(FRAS1):c.8698G>A (p.Glu2900Lys) rs150998139 0.00021
NM_025074.7(FRAS1):c.6530T>C (p.Val2177Ala) rs76345011 0.00020
NM_025074.7(FRAS1):c.10008G>A (p.Pro3336=) rs76120498 0.00012
NM_025074.7(FRAS1):c.1255+10T>C rs540508144 0.00012
NM_025074.7(FRAS1):c.10425C>T (p.His3475=) rs376096303 0.00009
NM_025074.7(FRAS1):c.10852A>G (p.Thr3618Ala) rs192225415 0.00006
NM_025074.7(FRAS1):c.*391C>T rs564787250 0.00002
NM_025074.7(FRAS1):c.11695C>T (p.Leu3899=) rs367723684 0.00002
NM_025074.7(FRAS1):c.*1085C>T rs570309641 0.00001
NM_025074.7(FRAS1):c.8486C>A (p.Ser2829Tyr) rs376788346 0.00001
NM_001366722.1(GRIP1):c.*1261dup rs35499444
NM_001366722.1(GRIP1):c.*1299_*1301dup rs200995788
NM_001366722.1(GRIP1):c.*1524_*1527del rs148261691
NM_001366722.1(GRIP1):c.*647_*650dup rs200677568
NM_001366722.1(GRIP1):c.*695_*697dup rs201977256
NM_001366722.1(GRIP1):c.1355-10_1355-8del rs148083271
NM_025074.6(FRAS1):c.*3146_*3149delTTTG rs148508826
NM_025074.7(FRAS1):c.7029+9A>C rs188606284
NM_207361.6(FREM2):c.7520-5del rs36084034

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