ClinVar Miner

List of variants studied for Fraser syndrome 3 by Fulgent Genetics, Fulgent Genetics

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Total variants: 24
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HGVS dbSNP gnomAD frequency
NM_001366722.1(GRIP1):c.2880G>A (p.Ser960=) rs181527317 0.00242
NM_001366722.1(GRIP1):c.2283G>A (p.Ser761=) rs200863167 0.00168
NM_001366722.1(GRIP1):c.817T>C (p.Cys273Arg) rs201673783 0.00094
NM_001366722.1(GRIP1):c.2886G>A (p.Pro962=) rs375330927 0.00038
NM_001366722.1(GRIP1):c.1199-7C>G rs200313638 0.00029
NM_001366722.1(GRIP1):c.55+9C>A rs199740150 0.00025
NM_001366722.1(GRIP1):c.579-8C>T rs375593950 0.00024
NM_001366722.1(GRIP1):c.3223G>A (p.Gly1075Arg) rs201410285 0.00016
NM_001366722.1(GRIP1):c.2792C>T (p.Ser931Leu) rs200171461 0.00014
NM_001366722.1(GRIP1):c.1801G>A (p.Val601Ile) rs199936956 0.00013
NM_001366722.1(GRIP1):c.1791A>G (p.Gly597=) rs768730046 0.00006
NM_001366722.1(GRIP1):c.2885C>T (p.Pro962Leu) rs540468070 0.00006
NM_001366722.1(GRIP1):c.3332A>G (p.Gln1111Arg) rs542462169 0.00006
NM_001366722.1(GRIP1):c.1444G>A (p.Gly482Arg) rs771823092 0.00005
NM_001366722.1(GRIP1):c.162C>T (p.Val54=) rs759704197 0.00003
NM_001366722.1(GRIP1):c.215T>C (p.Ile72Thr) rs754422054 0.00003
NM_001366722.1(GRIP1):c.1015C>T (p.Arg339Trp) rs377476830 0.00002
NM_001366722.1(GRIP1):c.1381T>A (p.Leu461Met) rs753454152 0.00001
NM_001366722.1(GRIP1):c.2558G>A (p.Arg853Gln) rs760273176 0.00001
NM_001366722.1(GRIP1):c.3176C>G (p.Thr1059Ser) rs771473441 0.00001
NM_001366722.1(GRIP1):c.872+7A>G rs886049798 0.00001
NM_001366722.1(GRIP1):c.1785A>C (p.Lys595Asn) rs1565721288
NM_001366722.1(GRIP1):c.2394G>A (p.Thr798=) rs1300664235
NM_001366722.1(GRIP1):c.418+14C>A rs79994510

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