ClinVar Miner

List of variants in gene GRIP1 reported as uncertain significance for Fraser syndrome 1

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 13
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HGVS dbSNP gnomAD frequency
NM_001366722.1(GRIP1):c.*85_*87dup rs553542220 0.00025
NM_001366722.1(GRIP1):c.*1495_*1497dup rs553937765 0.00013
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

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