ClinVar Miner

List of variants in gene GRIP1 studied for Fraser syndrome 3

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Gene type:
ClinVar version:
Total variants: 104
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HGVS dbSNP gnomAD frequency
NM_001366722.1(GRIP1):c.2464+15T>C rs7970076 0.97982
NM_001366722.1(GRIP1):c.2461C>G (p.Gln821Glu) rs13277 0.87545
NM_001366722.1(GRIP1):c.724+10G>A rs12316942 0.67684
NM_001366722.1(GRIP1):c.1838+13G>T rs7397862 0.49975
NM_001366722.1(GRIP1):c.*616T>C rs1168308 0.47053
NM_001366722.1(GRIP1):c.503-15C>A rs11838180 0.27190
NM_001366722.1(GRIP1):c.418+26A>G rs66522623 0.25360
NM_001366722.1(GRIP1):c.*138C>T rs191549204 0.00713
NM_001366722.1(GRIP1):c.2606G>A (p.Arg869Gln) rs145115262 0.00595
NM_001366722.1(GRIP1):c.*1314G>A rs144894732 0.00409
NM_001366722.1(GRIP1):c.*930T>A rs138773990 0.00342
NM_001366722.1(GRIP1):c.*99G>A rs200232418 0.00287
NM_001366722.1(GRIP1):c.2880G>A (p.Ser960=) rs181527317 0.00242
NM_001366722.1(GRIP1):c.*428C>T rs78619935 0.00225
NM_001366722.1(GRIP1):c.-172A>G rs188800373 0.00198
NM_001366722.1(GRIP1):c.2283G>A (p.Ser761=) rs200863167 0.00168
NM_001366722.1(GRIP1):c.2381T>G (p.Met794Arg) rs144494437 0.00155
NM_001366722.1(GRIP1):c.1645A>G (p.Ile549Val) rs201867922 0.00148
NM_001366722.1(GRIP1):c.1756A>C (p.Ile586Leu) rs189438534 0.00147
NM_001366722.1(GRIP1):c.-165A>C rs566069611 0.00138
NM_001366722.1(GRIP1):c.817T>C (p.Cys273Arg) rs201673783 0.00094
NM_001366722.1(GRIP1):c.160G>A (p.Val54Ile) rs199768740 0.00087
NM_001366722.1(GRIP1):c.-158G>A rs559798312 0.00069
NM_001366722.1(GRIP1):c.*617G>A rs554240061 0.00048
NM_001366722.1(GRIP1):c.2886G>A (p.Pro962=) rs375330927 0.00038
NM_001366722.1(GRIP1):c.*1262T>A rs886049791 0.00035
NM_001366722.1(GRIP1):c.2870G>A (p.Arg957His) rs202030145 0.00034
NM_001366722.1(GRIP1):c.1199-7C>G rs200313638 0.00029
NM_001366722.1(GRIP1):c.692C>T (p.Ala231Val) rs150958775 0.00029
NM_001366722.1(GRIP1):c.1688-6T>C rs111776176 0.00027
NM_001366722.1(GRIP1):c.1428G>A (p.Thr476=) rs202009431 0.00026
NM_001366722.1(GRIP1):c.55+9C>A rs199740150 0.00025
NM_001366722.1(GRIP1):c.*234G>A rs541596282 0.00024
NM_001366722.1(GRIP1):c.579-8C>T rs375593950 0.00024
NM_001366722.1(GRIP1):c.1687+12T>C rs151041073 0.00023
NM_001366722.1(GRIP1):c.1688-3T>C rs185129168 0.00021
NM_001366722.1(GRIP1):c.*667C>T rs191784180 0.00016
NM_001366722.1(GRIP1):c.3223G>A (p.Gly1075Arg) rs201410285 0.00016
NM_001366722.1(GRIP1):c.*1287A>T rs544816589 0.00015
NM_001366722.1(GRIP1):c.*4C>T rs367666328 0.00015
NM_001366722.1(GRIP1):c.*716T>C rs531925092 0.00014
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.3048T>C (p.Phe1016=) rs372970620 0.00013
NM_001366722.1(GRIP1):c.345C>T (p.Asp115=) rs760613522 0.00011
NM_001366722.1(GRIP1):c.92A>G (p.Lys31Arg) rs200713915 0.00011
NM_001366722.1(GRIP1):c.1794C>A (p.Asp598Glu) rs371673578 0.00009
NM_001366722.1(GRIP1):c.3199G>C (p.Val1067Leu) rs116894395 0.00009
NM_001366722.1(GRIP1):c.*1019C>T rs1345779940 0.00006
NM_001366722.1(GRIP1):c.*235G>T rs886049796 0.00006
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.3222C>T (p.Ser1074=) rs558365010 0.00006
NM_001366722.1(GRIP1):c.3332A>G (p.Gln1111Arg) rs542462169 0.00006
NM_001366722.1(GRIP1):c.*611T>C rs984899547 0.00005
NM_001366722.1(GRIP1):c.1444G>A (p.Gly482Arg) rs771823092 0.00005
NM_001366722.1(GRIP1):c.236G>A (p.Arg79Lys) rs375701385 0.00004
NM_001366722.1(GRIP1):c.2793G>A (p.Ser931=) rs371224677 0.00004
NM_001366722.1(GRIP1):c.*1149A>G rs144864808 0.00003
NM_001366722.1(GRIP1):c.1583A>G (p.Asn528Ser) rs374486330 0.00003
NM_001366722.1(GRIP1):c.162C>T (p.Val54=) rs759704197 0.00003
NM_001366722.1(GRIP1):c.1880A>G (p.Asp627Gly) rs200069844 0.00003
NM_001366722.1(GRIP1):c.215T>C (p.Ile72Thr) rs754422054 0.00003
NM_001366722.1(GRIP1):c.3304T>A (p.Trp1102Arg) rs536657259 0.00003
NM_001366722.1(GRIP1):c.*1328G>A rs886049790 0.00002
NM_001366722.1(GRIP1):c.1015C>T (p.Arg339Trp) rs377476830 0.00002
NM_001366722.1(GRIP1):c.1389G>A (p.Gly463=) rs200499586 0.00002
NM_001366722.1(GRIP1):c.*499A>G rs572566894 0.00001
NM_001366722.1(GRIP1):c.*821T>G rs867272684 0.00001
NM_001366722.1(GRIP1):c.*93A>G rs1284400061 0.00001
NM_001366722.1(GRIP1):c.1269G>A (p.Gly423=) rs539858835 0.00001
NM_001366722.1(GRIP1):c.1381T>A (p.Leu461Met) rs753454152 0.00001
NM_001366722.1(GRIP1):c.1471G>A (p.Val491Met) rs745834706 0.00001
NM_001366722.1(GRIP1):c.2558G>A (p.Arg853Gln) rs760273176 0.00001
NM_001366722.1(GRIP1):c.2849G>A (p.Arg950Gln) rs755528209 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.*1216G>T rs2054042410
NM_001366722.1(GRIP1):c.*1511G>A rs760559161
NM_001366722.1(GRIP1):c.*228C>A rs1344322970
NM_001366722.1(GRIP1):c.*417G>A rs886049795
NM_001366722.1(GRIP1):c.*832G>C rs2054060318
NM_001366722.1(GRIP1):c.*915T>C rs886049792
NM_001366722.1(GRIP1):c.1115A>G (p.Asn372Ser) rs777164145
NM_001366722.1(GRIP1):c.1337_1340del (p.Lys446fs) rs397514486
NM_001366722.1(GRIP1):c.1785A>C (p.Lys595Asn) rs1565721288
NM_001366722.1(GRIP1):c.1787C>G (p.Pro596Arg) rs200955760
NM_001366722.1(GRIP1):c.1930C>T (p.Gln644Ter) rs2057189303
NM_001366722.1(GRIP1):c.2269+1G>C rs397514485
NM_001366722.1(GRIP1):c.2394G>A (p.Thr798=) rs1300664235
NM_001366722.1(GRIP1):c.240A>G (p.Val80=) rs886049799
NM_001366722.1(GRIP1):c.2423C>T (p.Ser808Leu) rs1244319253
NM_001366722.1(GRIP1):c.270T>C (p.Ala90=) rs867711989
NM_001366722.1(GRIP1):c.2814T>C (p.Asn938=) rs2055525326
NM_001366722.1(GRIP1):c.30T>A (p.Cys10Ter) rs758192469
NM_001366722.1(GRIP1):c.386T>C (p.Val129Ala) rs568959118
NM_001366722.1(GRIP1):c.418+14C>A rs79994510
NM_001366722.1(GRIP1):c.421G>A (p.Val141Met)
NM_001366722.1(GRIP1):c.553G>A (p.Val185Ile) rs754804786
NM_001366722.1(GRIP1):c.659T>C (p.Met220Thr)
NM_001366722.1(GRIP1):c.730G>A (p.Val244Met) rs2059260334
NM_001366722.1(GRIP1):c.815G>T (p.Cys272Phe)
NM_001366722.1(GRIP1):c.820A>G (p.Asn274Asp) rs2059257106
NM_001366722.1(GRIP1):c.964G>A (p.Ala322Thr) rs17102531

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