List of variants reported as likely benign for cerebral cavernous malformation

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Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 139

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HGVS	dbSNP	gnomAD frequency
NM_019004.2(ANKIB1):c.-605T>C	rs143215997	0.00775
NM_194454.3(KRIT1):c.-356G>A	rs117169559	0.00762
NM_031443.4(CCM2):c.984G>A (p.Gly328=)	rs112504276	0.00732
NM_194456.1(KRIT1):c.*1363T>G	rs148980420	0.00355
NM_007217.4(PDCD10):c.395+46C>T	rs200959967	0.00353
NM_019004.2(ANKIB1):c.-593G>A	rs553392669	0.00255
NM_007217.4(PDCD10):c.*285G>T	rs190941416	0.00245
NM_194454.3(KRIT1):c.1095A>G (p.Gly365=)	rs143710815	0.00238
NM_194454.3(KRIT1):c.-43C>T	rs193080208	0.00220
NM_194454.3(KRIT1):c.846-5dup	rs373763254	0.00219
NM_194454.3(KRIT1):c.1245T>G (p.Ile415Met)	rs41278788	0.00194
NM_194456.1(KRIT1):c.*1750C>T	rs188612683	0.00188
NM_194454.3(KRIT1):c.1140G>A (p.Thr380=)	rs140009885	0.00187
NM_194454.3(KRIT1):c.*132T>G	rs572414111	0.00138
NM_194454.3(KRIT1):c.*137del	rs543954194	0.00138
NM_031443.4(CCM2):c.980A>G (p.Asn327Ser)	rs150428392	0.00128
NM_031443.4(CCM2):c.1217C>T (p.Thr406Met)	rs150734280	0.00119
NM_194454.3(KRIT1):c.77G>A (p.Arg26Gln)	rs34358665	0.00097
NM_194454.3(KRIT1):c.1146+8A>T	rs182762651	0.00093
NM_194454.3(KRIT1):c.2207C>T (p.Ser736Leu)	rs151059782	0.00081
NM_007217.4(PDCD10):c.574G>A (p.Val192Ile)	rs151267430	0.00061
NM_031443.4(CCM2):c.735C>T (p.Ser245=)	rs199682975	0.00053
NM_194454.3(KRIT1):c.302G>T (p.Gly101Val)	rs147568834	0.00044
NM_001122752.2(SERPINI1):c.-19+117A>G	rs145045884	0.00043
NM_194454.3(KRIT1):c.1412-9G>A	rs199932606	0.00043
NM_194454.3(KRIT1):c.235A>G (p.Ile79Val)	rs116801031	0.00038
NM_194454.3(KRIT1):c.-2-7T>C	rs550533414	0.00029
NM_194454.3(KRIT1):c.845+10C>T	rs372125478	0.00026
NM_194454.3(KRIT1):c.587C>G (p.Ala196Gly)	rs549707288	0.00024
NM_194454.3(KRIT1):c.1326C>G (p.Thr442=)	rs150912644	0.00023
NM_031443.4(CCM2):c.126G>A (p.Leu42=)	rs146579519	0.00021
NM_031443.4(CCM2):c.1284C>T (p.Ile428=)	rs144918172	0.00020
NM_194454.3(KRIT1):c.1914A>G (p.Ala638=)	rs146106391	0.00019
NM_194454.3(KRIT1):c.510A>G (p.Gln170=)	rs200684252	0.00018
NM_194454.3(KRIT1):c.*234G>A	rs574668355	0.00016
NM_194454.3(KRIT1):c.444T>C (p.His148=)	rs746035680	0.00014
NM_194454.3(KRIT1):c.845+9T>G	rs140152251	0.00014
NM_031443.4(CCM2):c.1238C>T (p.Ser413Leu)	rs143962510	0.00011
NM_031443.4(CCM2):c.568G>A (p.Val190Met)	rs200358025	0.00011
NM_194454.3(KRIT1):c.1752C>T (p.Ile584=)	rs148836047	0.00011
NM_194454.3(KRIT1):c.1809T>C (p.His603=)	rs149754162	0.00011
NM_194454.3(KRIT1):c.582A>G (p.Ala194=)	rs369744043	0.00008
NM_194454.3(KRIT1):c.1355G>A (p.Arg452His)	rs201272513	0.00006
NM_194454.3(KRIT1):c.264A>G (p.Gly88=)	rs201877439	0.00006
NM_031443.4(CCM2):c.612C>T (p.Val204=)	rs181474100	0.00004
NM_194454.3(KRIT1):c.1063C>T (p.Leu355Phe)	rs182763805	0.00004
NM_031443.4(CCM2):c.48A>T (p.Pro16=)	rs142320735	0.00003
NM_194454.3(KRIT1):c.1428A>G (p.Pro476=)	rs781533650	0.00003
NM_194454.3(KRIT1):c.1134A>T (p.Pro378=)	rs752464613	0.00002
NM_007217.4(PDCD10):c.213C>T (p.Ser71=)	rs201316215	0.00001
NM_007217.4(PDCD10):c.45A>G (p.Thr15=)	rs751478724	0.00001
NM_007217.4(PDCD10):c.96+17T>C	rs1208666143	0.00001
NM_031443.4(CCM2):c.1023C>A (p.Leu341=)	rs1174989938	0.00001
NM_031443.4(CCM2):c.1026C>T (p.Tyr342=)	rs556953955	0.00001
NM_031443.4(CCM2):c.472+16G>A	rs1798687606	0.00001
NM_031443.4(CCM2):c.777G>A (p.Glu259=)	rs765305537	0.00001
NM_194454.3(KRIT1):c.*57G>A	rs529937203	0.00001
NM_194454.3(KRIT1):c.-312A>G	rs538102163	0.00001
NM_194454.3(KRIT1):c.1176A>G (p.Pro392=)	rs538610091	0.00001
NM_194454.3(KRIT1):c.675A>T (p.Ala225=)	rs770622492	0.00001
NM_194454.3(KRIT1):c.729+8T>C	rs1208375976	0.00001
NM_194454.3(KRIT1):c.885C>T (p.Ser295=)	rs761571988	0.00001
NM_194456.1(KRIT1):c.*1530T>C	rs75182503	0.00001
NM_007217.4(PDCD10):c.150+11A>G
NM_007217.4(PDCD10):c.159A>G (p.Lys53=)
NM_007217.4(PDCD10):c.268+18del
NM_007217.4(PDCD10):c.270G>A (p.Glu90=)
NM_007217.4(PDCD10):c.312C>T (p.Asn104=)
NM_007217.4(PDCD10):c.396-19T>C
NM_007217.4(PDCD10):c.475-4del	rs772163237
NM_007217.4(PDCD10):c.475-8G>A
NM_007217.4(PDCD10):c.573C>T (p.Phe191=)
NM_031443.4(CCM2):c.1134C>T (p.Arg378=)
NM_031443.4(CCM2):c.1164C>T (p.His388=)
NM_031443.4(CCM2):c.120C>T (p.Arg40=)
NM_031443.4(CCM2):c.1278G>A (p.Ser426=)	rs371498958
NM_031443.4(CCM2):c.1299G>A (p.Glu433=)	rs1784232769
NM_031443.4(CCM2):c.156C>T (p.Arg52=)
NM_031443.4(CCM2):c.180C>T (p.Ser60=)
NM_031443.4(CCM2):c.204+11A>G
NM_031443.4(CCM2):c.205-18T>G	rs2128747278
NM_031443.4(CCM2):c.288+11C>T
NM_031443.4(CCM2):c.289-14G>A
NM_031443.4(CCM2):c.31-14G>A
NM_031443.4(CCM2):c.357C>T (p.Asn119=)
NM_031443.4(CCM2):c.472+13A>G
NM_031443.4(CCM2):c.472+17G>C	rs1447843130
NM_031443.4(CCM2):c.48A>G (p.Pro16=)
NM_031443.4(CCM2):c.544C>T (p.Leu182=)
NM_031443.4(CCM2):c.549G>A (p.Ser183=)
NM_031443.4(CCM2):c.55C>A (p.Arg19=)
NM_031443.4(CCM2):c.609+18C>T	rs201140198
NM_031443.4(CCM2):c.636G>T (p.Leu212=)
NM_031443.4(CCM2):c.684T>C (p.Phe228=)
NM_031443.4(CCM2):c.732G>A (p.Leu244=)
NM_031443.4(CCM2):c.745+19G>A
NM_031443.4(CCM2):c.746-17C>T
NM_031443.4(CCM2):c.783C>T (p.Tyr261=)
NM_031443.4(CCM2):c.804-14A>T
NM_031443.4(CCM2):c.885C>T (p.Ala295=)
NM_031443.4(CCM2):c.915+16A>G
NM_031443.4(CCM2):c.916-3C>T	rs373072247
NM_031443.4(CCM2):c.916-7C>T
NM_194454.3(KRIT1):c.1023A>G (p.Leu341=)
NM_194454.3(KRIT1):c.103-7A>T
NM_194454.3(KRIT1):c.126T>C (p.Ile42=)
NM_194454.3(KRIT1):c.1299T>G (p.Ser433=)
NM_194454.3(KRIT1):c.1326C>T (p.Thr442=)	rs150912644
NM_194454.3(KRIT1):c.1329A>G (p.Thr443=)
NM_194454.3(KRIT1):c.1377A>G (p.Gln459=)
NM_194454.3(KRIT1):c.1384A>G (p.Thr462Ala)
NM_194454.3(KRIT1):c.1411+14T>C	rs1450901829
NM_194454.3(KRIT1):c.1411+20_1411+24del	rs886038758
NM_194454.3(KRIT1):c.1419A>C (p.Gln473His)	rs748732288
NM_194454.3(KRIT1):c.1440C>T (p.Pro480=)	rs1321821110
NM_194454.3(KRIT1):c.1480T>C (p.Leu494=)
NM_194454.3(KRIT1):c.1680A>G (p.Gln560=)
NM_194454.3(KRIT1):c.168G>A (p.Thr56=)
NM_194454.3(KRIT1):c.1731-14A>C
NM_194454.3(KRIT1):c.1860C>T (p.His620=)
NM_194454.3(KRIT1):c.2026-20del	rs763882887
NM_194454.3(KRIT1):c.213C>T (p.Tyr71=)
NM_194454.3(KRIT1):c.228C>T (p.Thr76=)
NM_194454.3(KRIT1):c.30A>G (p.Ala10=)
NM_194454.3(KRIT1):c.387C>T (p.Cys129=)	rs2131676285
NM_194454.3(KRIT1):c.485+12C>T
NM_194454.3(KRIT1):c.485+13G>A
NM_194454.3(KRIT1):c.485+13G>T
NM_194454.3(KRIT1):c.525A>G (p.Pro175=)	rs753361614
NM_194454.3(KRIT1):c.567T>C (p.Asn189=)
NM_194454.3(KRIT1):c.594A>G (p.Glu198=)
NM_194454.3(KRIT1):c.612C>T (p.Asn204=)
NM_194454.3(KRIT1):c.615A>G (p.Ser205=)	rs2131662377
NM_194454.3(KRIT1):c.636A>G (p.Ala212=)
NM_194454.3(KRIT1):c.730-4del
NM_194454.3(KRIT1):c.845+10C>G	rs372125478
NM_194454.3(KRIT1):c.918T>C (p.Arg306=)	rs2131642409
NM_194454.3(KRIT1):c.990-22GTTT[4]
NM_194454.3(KRIT1):c.990-5T>C

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