ClinVar Miner

List of variants reported as uncertain significance for Fraser syndrome 3 by Fulgent Genetics, Fulgent Genetics

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ClinVar version:
Total variants: 110
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HGVS dbSNP gnomAD frequency
NM_001366722.1(GRIP1):c.817T>C (p.Cys273Arg) rs201673783 0.00090
NM_001366722.1(GRIP1):c.2870G>A (p.Arg957His) rs202030145 0.00034
NM_001366722.1(GRIP1):c.2620G>A (p.Gly874Ser) rs565811258 0.00025
NM_001366722.1(GRIP1):c.2834G>A (p.Arg945His) rs199951418 0.00022
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.92A>G (p.Lys31Arg) rs200713915 0.00012
NM_001366722.1(GRIP1):c.1265T>C (p.Met422Thr) rs942625443 0.00009
NM_001366722.1(GRIP1):c.1794C>A (p.Asp598Glu) rs371673578 0.00008
NM_001366722.1(GRIP1):c.2329G>A (p.Asp777Asn) rs373844044 0.00007
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.107C>T (p.Ala36Val) rs746032734 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.1381T>A (p.Leu461Met) rs753454152 0.00003
NM_001366722.1(GRIP1):c.1438G>C (p.Val480Leu) rs775402856 0.00003
NM_001366722.1(GRIP1):c.215T>C (p.Ile72Thr) rs754422054 0.00003
NM_001366722.1(GRIP1):c.43C>T (p.Arg15Ter) rs138258055 0.00003
NM_001366722.1(GRIP1):c.77C>A (p.Ser26Tyr) rs1461304568 0.00003
NM_001366722.1(GRIP1):c.781G>A (p.Ala261Thr) rs199634200 0.00003
NM_001366722.1(GRIP1):c.1015C>T (p.Arg339Trp) rs377476830 0.00002
NM_001366722.1(GRIP1):c.1314G>C (p.Met438Ile) rs1332263241 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.452T>C (p.Val151Ala) rs765879233 0.00001
NM_001366722.1(GRIP1):c.508G>A (p.Ala170Thr) rs774911479 0.00001
NM_001366722.1(GRIP1):c.598G>A (p.Gly200Ser) rs756748310 0.00001
NM_001366722.1(GRIP1):c.820A>G (p.Asn274Asp) rs2059257106 0.00001
NM_001366722.1(GRIP1):c.872+7A>G rs886049798 0.00001
NM_001366722.1(GRIP1):c.1036G>A (p.Asp346Asn)
NM_001366722.1(GRIP1):c.1217C>T (p.Ser406Phe)
NM_001366722.1(GRIP1):c.1232C>G (p.Ser411Cys)
NM_001366722.1(GRIP1):c.1235T>C (p.Met412Thr)
NM_001366722.1(GRIP1):c.1255T>A (p.Ser419Thr)
NM_001366722.1(GRIP1):c.1303C>T (p.Arg435Cys)
NM_001366722.1(GRIP1):c.1331A>G (p.Lys444Arg)
NM_001366722.1(GRIP1):c.1429G>A (p.Ala477Thr)
NM_001366722.1(GRIP1):c.1493C>T (p.Ser498Phe) rs770437517
NM_001366722.1(GRIP1):c.1518C>G (p.Ile506Met) rs752264572
NM_001366722.1(GRIP1):c.1542-12G>T
NM_001366722.1(GRIP1):c.1542A>T (p.Arg514Ser)
NM_001366722.1(GRIP1):c.154A>G (p.Thr52Ala)
NM_001366722.1(GRIP1):c.1604G>A (p.Ser535Asn)
NM_001366722.1(GRIP1):c.1649C>T (p.Thr550Met)
NM_001366722.1(GRIP1):c.169A>G (p.Met57Val) rs1287179524
NM_001366722.1(GRIP1):c.1710A>T (p.Gly570=) rs2500513293
NM_001366722.1(GRIP1):c.1721T>C (p.Val574Ala)
NM_001366722.1(GRIP1):c.1785A>C (p.Lys595Asn) rs1565721288
NM_001366722.1(GRIP1):c.1786C>T (p.Pro596Ser)
NM_001366722.1(GRIP1):c.178G>A (p.Glu60Lys)
NM_001366722.1(GRIP1):c.1792G>A (p.Asp598Asn)
NM_001366722.1(GRIP1):c.1918G>A (p.Val640Ile)
NM_001366722.1(GRIP1):c.1936T>C (p.Cys646Arg)
NM_001366722.1(GRIP1):c.1988A>C (p.Glu663Ala)
NM_001366722.1(GRIP1):c.2002G>A (p.Gly668Arg)
NM_001366722.1(GRIP1):c.2005G>A (p.Ala669Thr)
NM_001366722.1(GRIP1):c.2033G>A (p.Arg678His)
NM_001366722.1(GRIP1):c.214A>G (p.Ile72Val)
NM_001366722.1(GRIP1):c.2156G>A (p.Arg719Gln)
NM_001366722.1(GRIP1):c.2269G>T (p.Ala757Ser)
NM_001366722.1(GRIP1):c.2282C>T (p.Ser761Leu)
NM_001366722.1(GRIP1):c.2291A>G (p.Lys764Arg)
NM_001366722.1(GRIP1):c.2381T>C (p.Met794Thr)
NM_001366722.1(GRIP1):c.2394G>A (p.Thr798=) rs1300664235
NM_001366722.1(GRIP1):c.239T>C (p.Val80Ala)
NM_001366722.1(GRIP1):c.2429A>T (p.Asp810Val)
NM_001366722.1(GRIP1):c.2432G>A (p.Gly811Glu)
NM_001366722.1(GRIP1):c.2443G>C (p.Asp815His)
NM_001366722.1(GRIP1):c.2459C>G (p.Thr820Ser)
NM_001366722.1(GRIP1):c.2558G>T (p.Arg853Leu)
NM_001366722.1(GRIP1):c.2591A>G (p.Tyr864Cys)
NM_001366722.1(GRIP1):c.2605C>T (p.Arg869Trp) rs747210276
NM_001366722.1(GRIP1):c.2629G>A (p.Gly877Arg)
NM_001366722.1(GRIP1):c.2643T>A (p.Ser881Arg)
NM_001366722.1(GRIP1):c.2670C>G (p.Phe890Leu)
NM_001366722.1(GRIP1):c.2681C>T (p.Ala894Val)
NM_001366722.1(GRIP1):c.2733+3A>G
NM_001366722.1(GRIP1):c.2740G>A (p.Ala914Thr)
NM_001366722.1(GRIP1):c.2749C>A (p.Arg917Ser) rs749173900
NM_001366722.1(GRIP1):c.2750G>A (p.Arg917His)
NM_001366722.1(GRIP1):c.2801C>T (p.Thr934Met)
NM_001366722.1(GRIP1):c.2803A>G (p.Met935Val)
NM_001366722.1(GRIP1):c.2846G>A (p.Gly949Glu)
NM_001366722.1(GRIP1):c.2905C>T (p.Arg969Trp)
NM_001366722.1(GRIP1):c.295G>A (p.Asp99Asn)
NM_001366722.1(GRIP1):c.2980A>T (p.Ile994Phe)
NM_001366722.1(GRIP1):c.3101T>C (p.Ile1034Thr)
NM_001366722.1(GRIP1):c.3200T>C (p.Val1067Ala)
NM_001366722.1(GRIP1):c.322A>C (p.Asn108His)
NM_001366722.1(GRIP1):c.323A>C (p.Asn108Thr)
NM_001366722.1(GRIP1):c.3247A>G (p.Ser1083Gly)
NM_001366722.1(GRIP1):c.3259C>G (p.Leu1087Val)
NM_001366722.1(GRIP1):c.3380C>T (p.Thr1127Ile)
NM_001366722.1(GRIP1):c.3383T>A (p.Leu1128Ter)
NM_001366722.1(GRIP1):c.338G>A (p.Arg113His)
NM_001366722.1(GRIP1):c.419-11C>T rs2061387927
NM_001366722.1(GRIP1):c.481A>G (p.Thr161Ala)
NM_001366722.1(GRIP1):c.527A>C (p.Lys176Thr) rs771410913
NM_001366722.1(GRIP1):c.55+3A>C
NM_001366722.1(GRIP1):c.587C>T (p.Thr196Met)
NM_001366722.1(GRIP1):c.58G>A (p.Glu20Lys)
NM_001366722.1(GRIP1):c.676T>C (p.Cys226Arg)
NM_001366722.1(GRIP1):c.718G>A (p.Val240Ile)
NM_001366722.1(GRIP1):c.754C>G (p.Leu252Val)
NM_001366722.1(GRIP1):c.787C>G (p.Leu263Val)
NM_001366722.1(GRIP1):c.797C>T (p.Ala266Val)
NM_001366722.1(GRIP1):c.878G>A (p.Gly293Asp)
NM_001366722.1(GRIP1):c.922A>G (p.Ser308Gly)
NM_001366722.1(GRIP1):c.979C>G (p.Gln327Glu)

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