List of variants in gene GSN studied for amyloidosis

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 171

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HGVS	dbSNP	gnomAD frequency
NM_198252.3(GSN):c.1417-22T>C	rs306769	0.85170
NM_198252.3(GSN):c.1763-34G>A	rs306771	0.80923
NM_198252.3(GSN):c.2115T>C (p.Phe705=)	rs9102	0.07073
NM_198252.3(GSN):c.1694C>T (p.Thr565Met)	rs76463933	0.05893
NM_198252.3(GSN):c.1260C>T (p.Gly420=)	rs2304393	0.05790
NM_198252.3(GSN):c.232G>A (p.Ala78Thr)	rs2230287	0.03231
NM_198252.3(GSN):c.1535C>G (p.Thr512Ser)	rs77681311	0.02987
NM_198252.3(GSN):c.29A>G (p.Lys10Arg)	rs115224458	0.02654
NM_198252.3(GSN):c.538A>G (p.Asn180Asp)	rs11550199	0.01287
NM_198252.3(GSN):c.1239A>G (p.Thr413=)	rs149375418	0.00861
NM_198252.3(GSN):c.513+19T>C	rs79969850	0.00853
NM_198252.3(GSN):c.382G>A (p.Val128Met)	rs41305623	0.00507
NM_198252.3(GSN):c.196+7C>T	rs146379508	0.00444
NM_198252.3(GSN):c.1680C>T (p.Ser560=)	rs73660439	0.00379
NM_198252.3(GSN):c.664-4A>G	rs143590302	0.00376
NM_198252.3(GSN):c.1850G>T (p.Arg617Leu)	rs9696578	0.00359
NM_198252.3(GSN):c.1288C>T (p.Arg430Cys)	rs116185403	0.00357
NM_198252.3(GSN):c.243C>T (p.Thr81=)	rs116956127	0.00302
NM_198252.3(GSN):c.597C>T (p.Asn199=)	rs146329975	0.00258
NM_198252.3(GSN):c.1416+16C>T	rs116723395	0.00233
NM_198252.3(GSN):c.186C>T (p.His62=)	rs144551136	0.00175
NM_198252.3(GSN):c.886+19G>T	rs200255784	0.00159
NM_198252.3(GSN):c.1225G>A (p.Val409Met)	rs140042418	0.00103
NM_198252.3(GSN):c.1637A>G (p.Lys546Arg)	rs184844415	0.00086
NM_198252.3(GSN):c.*185G>A	rs757682798	0.00065
NM_198252.3(GSN):c.1663G>A (p.Val555Met)	rs151208452	0.00063
NM_198252.3(GSN):c.1555G>A (p.Ala519Thr)	rs147554026	0.00058
NM_198252.3(GSN):c.1931C>T (p.Thr644Met)	rs144434647	0.00057
NM_198252.3(GSN):c.271C>T (p.Arg91Trp)	rs146956976	0.00041
NM_198252.3(GSN):c.197-4G>A	rs375172023	0.00034
NM_198252.3(GSN):c.1513G>A (p.Gly505Arg)	rs58750568	0.00033
NM_198252.3(GSN):c.2069G>A (p.Arg690Gln)	rs141510612	0.00029
NM_198252.3(GSN):c.1563C>T (p.Ser521=)	rs140414249	0.00026
NM_198252.3(GSN):c.285C>T (p.His95=)	rs142155964	0.00026
NM_198252.3(GSN):c.1098G>A (p.Val366=)	rs201325199	0.00025
NM_198252.3(GSN):c.1487A>G (p.Tyr496Cys)	rs139832048	0.00025
NM_198252.3(GSN):c.*98T>A	rs903037306	0.00021
NM_198252.3(GSN):c.1325+14G>A	rs113863232	0.00021
NM_198252.3(GSN):c.-9-1943G>A	rs568885924	0.00020
NM_198252.3(GSN):c.-9-1967C>T	rs372837702	0.00020
NM_198252.3(GSN):c.1939G>A (p.Val647Ile)	rs752572521	0.00020
NM_198252.3(GSN):c.1421G>A (p.Arg474His)	rs142828669	0.00019
NM_198252.3(GSN):c.*126T>C	rs886063411	0.00017
NM_198252.3(GSN):c.1727C>G (p.Ala576Gly)	rs567372749	0.00016
NM_198252.3(GSN):c.754-11C>T	rs374057474	0.00016
NM_198252.3(GSN):c.1191+4C>T	rs372713895	0.00014
NM_198252.3(GSN):c.1538G>A (p.Arg513His)	rs148410442	0.00014
NM_198252.3(GSN):c.1170C>T (p.Asp390=)	rs147583697	0.00013
NM_198252.3(GSN):c.1190A>G (p.Gln397Arg)	rs368537807	0.00012
NM_198252.3(GSN):c.1782G>A (p.Leu594=)	rs139239940	0.00012
NM_198252.3(GSN):c.431G>A (p.Arg144Gln)	rs144099356	0.00012
NM_198252.3(GSN):c.2046G>A (p.Thr682=)	rs747385746	0.00011
NM_198252.3(GSN):c.2082C>T (p.Thr694=)	rs368986042	0.00011
NM_198252.3(GSN):c.*205G>A	rs779431879	0.00010
NM_198252.3(GSN):c.276C>T (p.Ala92=)	rs548138013	0.00009
NM_198252.3(GSN):c.303C>T (p.Phe101=)	rs373779982	0.00009
NM_198252.3(GSN):c.741C>T (p.Ala247=)	rs751823302	0.00009
NM_198252.3(GSN):c.856G>A (p.Gly286Ser)	rs151155909	0.00009
NM_198252.3(GSN):c.-9-1951G>T	rs772288409	0.00007
NM_198252.3(GSN):c.126C>T (p.Asp42=)	rs200027070	0.00007
NM_198252.3(GSN):c.1485C>T (p.Ile495=)	rs374982895	0.00007
NM_198252.3(GSN):c.547C>T (p.Arg183Trp)	rs371175865	0.00007
NM_198252.3(GSN):c.1191+14G>A	rs377308627	0.00006
NM_198252.3(GSN):c.1420C>T (p.Arg474Cys)	rs138341672	0.00006
NM_198252.3(GSN):c.427G>A (p.Gly143Arg)	rs750132751	0.00006
NM_198252.3(GSN):c.602G>A (p.Arg201Gln)	rs774085705	0.00006
NM_198252.3(GSN):c.638G>A (p.Gly213Asp)	rs371320840	0.00006
NM_198252.3(GSN):c.1423G>T (p.Val475Leu)	rs766945413	0.00005
NM_198252.3(GSN):c.1037G>A (p.Arg346Gln)	rs372681751	0.00004
NM_198252.3(GSN):c.1096G>A (p.Val366Met)	rs375323203	0.00004
NM_198252.3(GSN):c.1416+17G>A	rs747631468	0.00004
NM_198252.3(GSN):c.1444G>A (p.Ala482Thr)	rs375902120	0.00004
NM_198252.3(GSN):c.1576C>T (p.Arg526Trp)	rs1220983184	0.00004
NM_198252.3(GSN):c.2045C>T (p.Thr682Met)	rs142854368	0.00004
NM_198252.3(GSN):c.2065C>T (p.Arg689Trp)	rs148360076	0.00004
NM_198252.3(GSN):c.513+1G>A	rs138677601	0.00004
NM_198252.3(GSN):c.754-8C>T	rs757725237	0.00004
NM_198252.3(GSN):c.7G>T (p.Val3Leu)	rs138068754	0.00004
NM_198252.3(GSN):c.886+10A>G	rs768148669	0.00004
NM_198252.3(GSN):c.-9-2026C>T	rs1048849212	0.00003
NM_198252.3(GSN):c.1103G>A (p.Arg368Gln)	rs781764487	0.00003
NM_198252.3(GSN):c.1204G>A (p.Glu402Lys)	rs368079865	0.00003
NM_198252.3(GSN):c.1417A>G (p.Ser473Gly)	rs370997492	0.00003
NM_198252.3(GSN):c.1443C>T (p.Pro481=)	rs200156774	0.00003
NM_198252.3(GSN):c.1553G>A (p.Arg518His)	rs769400986	0.00003
NM_198252.3(GSN):c.1932G>A (p.Thr644=)	rs759980004	0.00003
NM_198252.3(GSN):c.235A>C (p.Ile79Leu)	rs766055612	0.00003
NM_198252.3(GSN):c.546T>G (p.Asn182Lys)	rs752698745	0.00003
NM_198252.3(GSN):c.753+1G>A	rs369830648	0.00003
NM_198252.3(GSN):c.1870A>G (p.Lys624Glu)	rs756053203	0.00002
NM_198252.3(GSN):c.2040C>T (p.Ile680=)	rs758909359	0.00002
NM_198252.3(GSN):c.228G>A (p.Ala76=)	rs761824852	0.00002
NM_198252.3(GSN):c.723G>A (p.Ala241=)	rs377624593	0.00002
NM_198252.3(GSN):c.886+12A>C	rs201952723	0.00002
NM_198252.3(GSN):c.*194G>A	rs886063412	0.00001
NM_198252.3(GSN):c.-9-2021G>A	rs886063405	0.00001
NM_198252.3(GSN):c.1009C>T (p.Leu337=)	rs528161256	0.00001
NM_198252.3(GSN):c.123C>T (p.Gly41=)	rs774617795	0.00001
NM_198252.3(GSN):c.1441C>A (p.Pro481Thr)	rs1468193571	0.00001
NM_198252.3(GSN):c.1506C>T (p.Arg502=)	rs199681748	0.00001
NM_198252.3(GSN):c.1507G>A (p.Glu503Lys)	rs998869731	0.00001
NM_198252.3(GSN):c.163G>A (p.Gly55Arg)	rs556563870	0.00001
NM_198252.3(GSN):c.1651G>A (p.Ala551Thr)	rs777955781	0.00001
NM_198252.3(GSN):c.1690A>G (p.Lys564Glu)	rs368207411	0.00001
NM_198252.3(GSN):c.1762G>T (p.Asp588Tyr)	rs757684181	0.00001
NM_198252.3(GSN):c.1763-10C>T	rs750829888	0.00001
NM_198252.3(GSN):c.1874T>C (p.Ile625Thr)	rs777767455	0.00001
NM_198252.3(GSN):c.1880G>A (p.Arg627His)	rs896776181	0.00001
NM_198252.3(GSN):c.1942A>G (p.Met648Val)	rs886063406	0.00001
NM_198252.3(GSN):c.2041G>A (p.Glu681Lys)	rs545428148	0.00001
NM_198252.3(GSN):c.2060G>A (p.Arg687Gln)	rs770023727	0.00001
NM_198252.3(GSN):c.322G>A (p.Gly108Ser)	rs367933536	0.00001
NM_198252.3(GSN):c.393C>T (p.Asn131=)	rs186654124	0.00001
NM_198252.3(GSN):c.487G>A (p.Asp163Asn)	rs121909715	0.00001
NM_198252.3(GSN):c.513C>T (p.Asn171=)	rs765499763	0.00001
NM_198252.3(GSN):c.616C>T (p.Arg206Ter)	rs376060588	0.00001
NM_198252.3(GSN):c.692C>T (p.Ala231Val)	rs754268709	0.00001
NM_198252.3(GSN):c.776T>C (p.Met259Thr)	rs770943559	0.00001
NM_198252.3(GSN):c.781G>A (p.Val261Ile)	rs745588757	0.00001
NM_198252.3(GSN):c.811G>A (p.Ala271Thr)	rs761334580	0.00001
NM_198252.3(GSN):c.989C>T (p.Pro330Leu)	rs1157815026	0.00001
NM_198252.3(GSN):c.116_117insG	rs751044080
NM_198252.3(GSN):c.116_117insGTG	rs751044080
NM_198252.3(GSN):c.120_121insG	rs886063409
NM_198252.3(GSN):c.124_125insC	rs886063410
NM_198252.3(GSN):c.*136dup	rs71680051
NM_198252.3(GSN):c.*28G>A	rs376801564
NM_198252.3(GSN):c.*97GT[11]	rs147410423
NM_198252.3(GSN):c.*97GT[12]	rs147410423
NM_198252.3(GSN):c.*97GT[13]	rs147410423
NM_198252.3(GSN):c.97_98insGGTG	rs886063408
NM_198252.3(GSN):c.-4C>G	rs2059919681
NM_198252.3(GSN):c.-9-1942G>A	rs1268467289
NM_198252.3(GSN):c.-9-1987dup
NM_198252.3(GSN):c.-9-1999_-9-1985del	rs751499422
NM_198252.3(GSN):c.-9-2043C>G	rs1202263036
NM_198252.3(GSN):c.-9-2057_-9-2037del	rs762432847
NM_198252.3(GSN):c.-9-2057_-9-2037dup	rs762432847
NM_198252.3(GSN):c.-9-2058_-9-2047dup	rs1371504521
NM_198252.3(GSN):c.-9-2066_-9-2060del	rs1564468965
NM_198252.3(GSN):c.-9-2091_-9-2064del	rs764841269
NM_198252.3(GSN):c.-9-2137C>T	rs886063404
NM_198252.3(GSN):c.1171G>A (p.Asp391Asn)	rs142034230
NM_198252.3(GSN):c.1267T>C (p.Tyr423His)
NM_198252.3(GSN):c.1324T>C (p.Trp442Arg)	rs2062427908
NM_198252.3(GSN):c.1326-1036C>T
NM_198252.3(GSN):c.1547A>G (p.Gln516Arg)	rs780840732
NM_198252.3(GSN):c.1577G>A (p.Arg526Gln)	rs528604896
NM_198252.3(GSN):c.1585G>A (p.Glu529Lys)	rs2063220897
NM_198252.3(GSN):c.162C>G (p.Asn54Lys)	rs146365204
NM_198252.3(GSN):c.1657C>G (p.Leu553Val)	rs2063344146
NM_198252.3(GSN):c.1762+19G>A	rs1274106245
NM_198252.3(GSN):c.1762+20del	rs895358104
NM_198252.3(GSN):c.1850G>A (p.Arg617His)	rs9696578
NM_198252.3(GSN):c.1887+11G>T	rs147527479
NM_198252.3(GSN):c.1915C>T (p.Gln639Ter)	rs2133938132
NM_198252.3(GSN):c.2002G>A (p.Glu668Lys)	rs886063407
NM_198252.3(GSN):c.2137del (p.Asp713fs)	rs750858951
NM_198252.3(GSN):c.231C>A (p.Ala77=)	rs140734150
NM_198252.3(GSN):c.272G>A (p.Arg91Gln)	rs138153246
NM_198252.3(GSN):c.397G>A (p.Val133Met)	rs368197143
NM_198252.3(GSN):c.397G>T (p.Val133Leu)	rs368197143
NM_198252.3(GSN):c.440T>C (p.Val147Ala)	rs2061027102
NM_198252.3(GSN):c.484G>A (p.Gly162Ser)	rs1355688870
NM_198252.3(GSN):c.487G>T (p.Asp163Tyr)	rs121909715
NM_198252.3(GSN):c.509G>C (p.Gly170Ala)	rs2061035565
NM_198252.3(GSN):c.761A>G (p.Asn254Ser)	rs756193920
NM_198252.3(GSN):c.886+19G>A	rs200255784
NM_198252.3(GSN):c.914A>G (p.Lys305Arg)	rs2061970047
NM_198252.3(GSN):c.997G>A (p.Gly333Ser)	rs751431867
NM_198252.3(GSN):c.998G>T (p.Gly333Val)	rs1014328091

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