List of variants in gene CP reported as likely benign for hereditary dementia

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 149

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HGVS	dbSNP	gnomAD frequency
NM_000096.4(CP):c.1652C>T (p.Thr551Ile)	rs61733458	0.02154
NM_000096.4(CP):c.1099C>T (p.Arg367Cys)	rs34624984	0.01447
NM_000096.4(CP):c.1209-15T>A	rs35465173	0.01446
NM_000096.4(CP):c.2378G>A (p.Arg793His)	rs115552500	0.01239
NM_000096.4(CP):c.2522C>G (p.Thr841Arg)	rs56033670	0.00435
NM_000096.4(CP):c.1430C>T (p.Pro477Leu)	rs35331711	0.00242
NM_000096.4(CP):c.322C>T (p.His108Tyr)	rs34386552	0.00235
NM_000096.4(CP):c.993T>C (p.Pro331=)	rs17847025	0.00213
NM_000096.4(CP):c.2571C>T (p.Tyr857=)	rs151304828	0.00189
NM_000096.4(CP):c.1945G>A (p.Ala649Thr)	rs141466225	0.00186
NM_000096.4(CP):c.2793A>G (p.Leu931=)	rs34987997	0.00186
NM_000096.4(CP):c.2684G>C (p.Gly895Ala)	rs139633388	0.00162
NM_000096.4(CP):c.249T>C (p.Thr83=)	rs138512757	0.00058
NM_000096.4(CP):c.2878+7C>A	rs371031293	0.00055
NM_000096.4(CP):c.2554+8C>T	rs749646388	0.00049
NM_000096.4(CP):c.938C>T (p.Thr313Ile)	rs144401501	0.00037
NM_000096.4(CP):c.2997C>T (p.His999=)	rs147475926	0.00029
NM_000096.4(CP):c.2554+14C>T	rs200965170	0.00026
NM_000096.4(CP):c.2565C>T (p.Leu855=)	rs781672409	0.00026
NM_000096.4(CP):c.716A>T (p.Tyr239Phe)	rs145481253	0.00024
NM_000096.4(CP):c.1104G>C (p.Gly368=)	rs142503847	0.00021
NM_000096.4(CP):c.1487A>G (p.Asn496Ser)	rs541708867	0.00021
NM_000096.4(CP):c.301A>G (p.Thr101Ala)	rs148041351	0.00021
NM_000096.4(CP):c.261G>A (p.Pro87=)	rs142440055	0.00016
NM_000096.4(CP):c.1458C>T (p.Asn486=)	rs144537170	0.00014
NM_000096.4(CP):c.93G>A (p.Thr31=)	rs201521886	0.00013
NM_000096.4(CP):c.1493A>G (p.Gln498Arg)	rs17847018	0.00011
NM_000096.4(CP):c.929G>A (p.Arg310His)	rs202217551	0.00010
NM_000096.4(CP):c.720C>T (p.Cys240=)	rs141646117	0.00009
NM_000096.4(CP):c.1548C>T (p.Thr516=)	rs184516720	0.00006
NM_000096.4(CP):c.1714-20C>T	rs367695920	0.00006
NM_000096.4(CP):c.2952G>A (p.Leu984=)	rs752058749	0.00006
NM_000096.4(CP):c.1131C>T (p.Ala377=)	rs150733154	0.00005
NM_000096.4(CP):c.1437G>A (p.Gly479=)	rs200883005	0.00004
NM_000096.4(CP):c.1899T>C (p.Gly633=)	rs147192657	0.00004
NM_000096.4(CP):c.2142T>C (p.Thr714=)	rs61734460	0.00004
NM_000096.4(CP):c.623A>G (p.Glu208Gly)	rs200933607	0.00004
NM_000096.4(CP):c.750C>T (p.Asn250=)	rs753021289	0.00004
NM_000096.4(CP):c.1209-10C>T	rs1553762033	0.00003
NM_000096.4(CP):c.1575A>G (p.Val525=)	rs760634973	0.00003
NM_000096.4(CP):c.1939T>A (p.Phe647Ile)	rs755977561	0.00003
NM_000096.4(CP):c.1944C>T (p.Ser648=)	rs376272235	0.00003
NM_000096.4(CP):c.1422T>C (p.Ser474=)	rs570042183	0.00002
NM_000096.4(CP):c.229G>C (p.Asp77His)	rs200683433	0.00002
NM_000096.4(CP):c.2310G>A (p.Lys770=)	rs553883583	0.00002
NM_000096.4(CP):c.863T>C (p.Met288Thr)	rs747305045	0.00002
NM_000096.4(CP):c.1036+16C>T	rs376410072	0.00001
NM_000096.4(CP):c.1036+8A>G	rs369718195	0.00001
NM_000096.4(CP):c.1098C>T (p.Ile366=)	rs117829763	0.00001
NM_000096.4(CP):c.1188A>G (p.Glu396=)	rs928128624	0.00001
NM_000096.4(CP):c.1293C>T (p.Ala431=)	rs758930665	0.00001
NM_000096.4(CP):c.1380C>T (p.Thr460=)	rs149790356	0.00001
NM_000096.4(CP):c.146+7C>T	rs1728813630	0.00001
NM_000096.4(CP):c.1713+15G>A	rs1400784376	0.00001
NM_000096.4(CP):c.1818G>A (p.Gln606=)	rs766556425	0.00001
NM_000096.4(CP):c.1896G>A (p.Pro632=)	rs764073986	0.00001
NM_000096.4(CP):c.1923G>A (p.Ser641=)	rs745966582	0.00001
NM_000096.4(CP):c.1974A>C (p.Ile658=)	rs751761820	0.00001
NM_000096.4(CP):c.2442A>G (p.Ala814=)	rs762942794	0.00001
NM_000096.4(CP):c.2555-20T>C	rs1725654318	0.00001
NM_000096.4(CP):c.2611G>A (p.Asp871Asn)	rs529607771	0.00001
NM_000096.4(CP):c.2697T>C (p.Val899=)	rs17847022	0.00001
NM_000096.4(CP):c.462G>A (p.Gln154=)	rs766925024	0.00001
NM_000096.4(CP):c.471C>T (p.Tyr157=)	rs773374620	0.00001
NM_000096.4(CP):c.514G>C (p.Gly172Arg)	rs768492670	0.00001
NM_000096.4(CP):c.528T>C (p.Thr176=)	rs778533284	0.00001
NM_000096.4(CP):c.607+15T>C	rs1439440422	0.00001
NM_000096.4(CP):c.1029T>C (p.His343=)
NM_000096.4(CP):c.1036+15C>T
NM_000096.4(CP):c.1037-16_1037-13del	rs760010903
NM_000096.4(CP):c.1037-5T>C
NM_000096.4(CP):c.1056C>T (p.Phe352=)
NM_000096.4(CP):c.1125C>T (p.Tyr375=)
NM_000096.4(CP):c.1208+18A>G
NM_000096.4(CP):c.1218G>A (p.Ala406=)
NM_000096.4(CP):c.1254C>T (p.Gly418=)
NM_000096.4(CP):c.1269G>A (p.Leu423=)	rs2108278024
NM_000096.4(CP):c.1320C>T (p.Gly440=)
NM_000096.4(CP):c.141T>C (p.Val47=)
NM_000096.4(CP):c.1431G>A (p.Pro477=)	rs763429281
NM_000096.4(CP):c.1467A>G (p.Thr489=)
NM_000096.4(CP):c.1501+18T>A	rs2108271964
NM_000096.4(CP):c.1551T>C (p.Tyr517=)
NM_000096.4(CP):c.1680C>T (p.Cys560=)	rs1553761342
NM_000096.4(CP):c.1698T>C (p.His566=)
NM_000096.4(CP):c.1714-13_1714-9del	rs2108244342
NM_000096.4(CP):c.1758T>C (p.Asp586=)
NM_000096.4(CP):c.1864+12A>G
NM_000096.4(CP):c.1865-12C>G
NM_000096.4(CP):c.1959C>T (p.Ala653=)
NM_000096.4(CP):c.1995T>C (p.Tyr665=)	rs1351532741
NM_000096.4(CP):c.2011C>T (p.Arg671Trp)
NM_000096.4(CP):c.2052G>A (p.Thr684=)
NM_000096.4(CP):c.210C>T (p.Ala70=)
NM_000096.4(CP):c.2133A>G (p.Gln711=)
NM_000096.4(CP):c.2202C>T (p.Tyr734=)	rs2108235775
NM_000096.4(CP):c.2263C>T (p.Leu755=)	rs763571936
NM_000096.4(CP):c.2285+9C>G
NM_000096.4(CP):c.2286-15G>A	rs34861155
NM_000096.4(CP):c.2286-15G>T	rs34861155
NM_000096.4(CP):c.2286-18G>C
NM_000096.4(CP):c.2316G>A (p.Glu772=)
NM_000096.4(CP):c.2331A>C (p.Ser777=)	rs746132110
NM_000096.4(CP):c.2367T>C (p.Asp789=)	rs1725922755
NM_000096.4(CP):c.240T>C (p.Phe80=)
NM_000096.4(CP):c.2421T>A (p.Ile807=)	rs998289672
NM_000096.4(CP):c.2514G>A (p.Gly838=)	rs1238808502
NM_000096.4(CP):c.2554+10G>A
NM_000096.4(CP):c.2555-12T>C
NM_000096.4(CP):c.2555-4T>G
NM_000096.4(CP):c.2622T>C (p.Cys874=)
NM_000096.4(CP):c.2662-13T>C	rs200646301
NM_000096.4(CP):c.2704A>C (p.Arg902=)	rs2108216869
NM_000096.4(CP):c.2811A>G (p.Thr937=)
NM_000096.4(CP):c.2835A>G (p.Val945=)	rs2108216294
NM_000096.4(CP):c.2878+9C>T	rs769666265
NM_000096.4(CP):c.2925C>T (p.His975=)
NM_000096.4(CP):c.2934T>C (p.Asp978=)
NM_000096.4(CP):c.2977T>C (p.Leu993=)
NM_000096.4(CP):c.3003T>C (p.His1001=)
NM_000096.4(CP):c.3018+8C>G
NM_000096.4(CP):c.3018+8C>T
NM_000096.4(CP):c.3018+9_3018+12dup	rs1342162840
NM_000096.4(CP):c.306A>G (p.Gly102=)
NM_000096.4(CP):c.3076C>T (p.Leu1026=)
NM_000096.4(CP):c.3111A>G (p.Leu1037=)
NM_000096.4(CP):c.3181+11A>C
NM_000096.4(CP):c.3182-7T>A
NM_000096.4(CP):c.390T>A (p.His130Gln)
NM_000096.4(CP):c.395-14A>T
NM_000096.4(CP):c.395-20C>T
NM_000096.4(CP):c.40A>G (p.Ser14Gly)
NM_000096.4(CP):c.411T>C (p.Asp137=)	rs747012860
NM_000096.4(CP):c.438T>C (p.Asp146=)	rs778389238
NM_000096.4(CP):c.465T>C (p.Tyr155=)
NM_000096.4(CP):c.468A>C (p.Thr156=)	rs532168420
NM_000096.4(CP):c.552T>C (p.Asp184=)
NM_000096.4(CP):c.607+18T>A
NM_000096.4(CP):c.607+18T>C
NM_000096.4(CP):c.607+9_607+11del
NM_000096.4(CP):c.608-4_608-3insT
NM_000096.4(CP):c.608-6C>T
NM_000096.4(CP):c.738T>C (p.Val246=)	rs1727947362
NM_000096.4(CP):c.746A>C (p.Asp249Ala)
NM_000096.4(CP):c.782-10T>C
NM_000096.4(CP):c.782-9G>T	rs566719310
NM_000096.4(CP):c.909A>G (p.Ala303=)
NM_000096.4(CP):c.966T>C (p.Phe322=)	rs1727813358
NM_000096.4(CP):c.984C>T (p.Ala328=)	rs2108290269

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