ClinVar Miner

List of variants in gene KRIT1 reported as likely benign for cerebral cavernous malformation

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 76
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HGVS dbSNP gnomAD frequency
NM_194454.3(KRIT1):c.-356G>A rs117169559 0.00762
NM_194456.1(KRIT1):c.*1363T>G rs148980420 0.00355
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_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_194454.3(KRIT1):c.302G>T (p.Gly101Val) rs147568834 0.00044
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_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_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_194454.3(KRIT1):c.1063C>T (p.Leu355Phe) rs182763805 0.00004
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_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_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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