ClinVar Miner

List of variants reported as pathogenic for See cases by Clinical Genomics Laboratory, Laboratory for Precision Diagnostics, University of Washington

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ClinVar version:
Total variants: 129
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HGVS dbSNP gnomAD frequency
GRCh37/hg19 11q14.2(chr11:86561752-86786833)x1
GRCh37/hg19 11q23.3-25(chr11:120576984-134934063)x1
GRCh37/hg19 11q24.2-25(chr11:125937383-134934063)x1
GRCh37/hg19 12p11.21-q13.12(chr12:31886971-50360461)x3
GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3
GRCh37/hg19 12q24.21(chr12:116443463-116457804)x1
GRCh37/hg19 12q24.33(chr12:131363916-133777645)x3
GRCh37/hg19 13q22.1-31.3(chr13:74459395-93481294)x1
GRCh37/hg19 13q31.3(chr13:90644219-92557099)x1
GRCh37/hg19 14q32.2-32.33(chr14:96829290-107287663)x1
GRCh37/hg19 15q11.1-13.2(chr15:20071673-30737344)x4
GRCh37/hg19 15q11.2(chr15:21903815-23272733)x1
GRCh37/hg19 15q11.2(chr15:22299434-23226254)x1
GRCh37/hg19 15q11.2(chr15:22427966-23226254)x1
GRCh37/hg19 15q11.2(chr15:22652330-23226254)x1
GRCh37/hg19 15q11.2(chr15:22652330-23272733)x1
GRCh37/hg19 15q11.2(chr15:22750305-23109890)x1
GRCh37/hg19 15q11.2(chr15:22750305-23114374)x3
GRCh37/hg19 15q11.2(chr15:22750305-23164315)x1
GRCh37/hg19 15q11.2(chr15:22750305-23164315)x3
GRCh37/hg19 15q11.2(chr15:22750305-23222284)x1
GRCh37/hg19 15q11.2(chr15:22750305-23226254)x1
GRCh37/hg19 15q11.2(chr15:22750305-23226254)x3
GRCh37/hg19 15q11.2(chr15:22750305-23272733)x1
GRCh37/hg19 15q11.2(chr15:22770994-23109890)x3
GRCh37/hg19 15q11.2(chr15:22835646-23272733)x3
GRCh37/hg19 15q13.1-13.3(chr15:28962131-32620127)x1
GRCh37/hg19 15q13.2-13.3(chr15:30611102-32514341)x1
GRCh37/hg19 15q13.2-13.3(chr15:30936285-32514341)x1
GRCh37/hg19 15q13.2-13.3(chr15:31140606-32438944)x1
GRCh37/hg19 15q13.3(chr15:32018731-32514341)x4
GRCh37/hg19 15q13.3(chr15:32019919-32514341)x3
GRCh37/hg19 15q13.3(chr15:32020066-32514341)x3
GRCh37/hg19 15q13.3(chr15:32064064-32514341)x3
GRCh37/hg19 15q13.3(chr15:32069375-32620127)x3
GRCh37/hg19 15q21.3(chr15:57367491-57456139)x1
GRCh37/hg19 16p11.2(chr16:28484556-29043450)x1
GRCh37/hg19 16p11.2(chr16:28825605-29043450)x1
GRCh37/hg19 16p11.2(chr16:29412503-30215621)x1
GRCh37/hg19 16p11.2(chr16:29595483-30198151)x1
GRCh37/hg19 16p11.2(chr16:29595483-30215621)x1
GRCh37/hg19 16p12.2(chr16:21771016-22409463)x1
GRCh37/hg19 16p13.11-12.3(chr16:15493046-18157612)x3
GRCh37/hg19 16p13.3(chr16:216742-233272)x0
GRCh37/hg19 16p13.3(chr16:3814227-3929941)x1
GRCh37/hg19 16p13.3(chr16:88165-1715454)x1
GRCh37/hg19 17p11.2(chr17:16908991-18322254)x1
GRCh37/hg19 17p12(chr17:14079630-15370444)x3
GRCh37/hg19 17p12(chr17:14098786-15495266)x1
GRCh37/hg19 17p13.3-13.2(chr17:8547-5627408)x1
GRCh37/hg19 17q11.2(chr17:29393104-30427403)x1
GRCh37/hg19 17q12(chr17:34815551-36244358)x1
GRCh37/hg19 17q12(chr17:34815551-36244358)x3
GRCh37/hg19 17q21.31(chr17:42969980-42993118)x1
GRCh37/hg19 17q22(chr17:56780562-57251609)x1
GRCh37/hg19 18p11.31(chr18:3162390-4390081)x1
GRCh37/hg19 18p11.32-11.21(chr18:13034-15026309)x1
GRCh37/hg19 18p11.32-11.21(chr18:13034-15330525)x1
GRCh37/hg19 18p11.32-11.21(chr18:13034-15375878)x1
GRCh37/hg19 18q21.32(chr18:57940764-58095560)x1
GRCh37/hg19 18q22.1-23(chr18:61802304-78015180)x1
GRCh37/hg19 18q23(chr18:73158604-78015180)x1
GRCh37/hg19 18q23(chr18:76399247-78015180)x1
GRCh37/hg19 19p13.3(chr19:260912-1163934)x3
GRCh37/hg19 19p13.3(chr19:260912-4384674)x3
GRCh37/hg19 1p36.22-36.21(chr1:11794553-12786444)x3
GRCh37/hg19 1p36.33-36.22(chr1:82154-11784118)x1
GRCh37/hg19 1p36.33-36.22(chr1:82154-12699337)x1
GRCh37/hg19 1p36.33-36.23(chr1:82154-7637060)x1
GRCh37/hg19 1p36.33-36.32(chr1:2261222-5304873)x1
GRCh37/hg19 1p36.33-36.32(chr1:82154-3349513)x3
GRCh37/hg19 1q21.1-21.2(chr1:146501348-147825548)x3
GRCh37/hg19 1q22(chr1:156070888-156238593)x1
GRCh37/hg19 1q32.1-44(chr1:204045948-249218992)x3
GRCh37/hg19 1q32.2-44(chr1:210152794-249218992)x3
GRCh37/hg19 20p13(chr20:63244-813880)x1
GRCh37/hg19 21q22.2-22.3(chr21:42044877-48100155)x3
GRCh37/hg19 22q11.1-11.21(chr22:16114244-18917748)x4
GRCh37/hg19 22q11.1-11.21(chr22:17012935-21431054)x4
GRCh37/hg19 22q11.21(chr22:18844632-21463730)x1
GRCh37/hg19 22q11.21(chr22:18844632-21797812)x1
GRCh37/hg19 22q11.21(chr22:18886915-20278471)x3
GRCh37/hg19 22q11.21(chr22:18886915-21463730)x1
GRCh37/hg19 22q11.21(chr22:18886915-21811991)x1
GRCh37/hg19 22q11.21(chr22:18889490-21917190)x1
GRCh37/hg19 22q11.21(chr22:18892575-20306993)x3
GRCh37/hg19 22q11.21(chr22:18919579-21460595)x1
GRCh37/hg19 22q11.21(chr22:20733495-21463730)x1
GRCh37/hg19 22q11.21-11.22(chr22:21979096-22941426)x3
GRCh37/hg19 22q12.3-13.1(chr22:35680095-38098981)x1
GRCh37/hg19 2p23.3-16.1(chr2:27861707-60790985)x3
GRCh37/hg19 2q13(chr2:111392259-113094793)x1
GRCh37/hg19 2q31.1(chr2:175887486-176989647)x1
GRCh37/hg19 2q31.1-32.3(chr2:177315153-196375520)x1
GRCh37/hg19 2q34-37.3(chr2:210779657-239879183)x3
GRCh37/hg19 2q37.3(chr2:239894072-243048760)x1
GRCh37/hg19 3q13.2-13.32(chr3:113233952-118525556)x1
GRCh37/hg19 3q22.3-26.1(chr3:138145289-162275610)x3
GRCh37/hg19 3q28-29(chr3:188386566-197838262)x3
GRCh37/hg19 3q29(chr3:195652973-197346971)x1
GRCh37/hg19 4p16.3-11(chr4:49450-49620898)x3
GRCh37/hg19 4p16.3-15.2(chr4:49450-24280482)x1
GRCh37/hg19 4p16.3-16.1(chr4:49450-8872474)x1
GRCh37/hg19 4q21.21-22.1(chr4:80482400-92572499)x1
GRCh37/hg19 5p15.33-13.3(chr5:25328-30672798)x1
GRCh37/hg19 6q24.3-25.1(chr6:148690764-150494873)x1
GRCh37/hg19 7p22.3(chr7:44935-1750797)x1
GRCh37/hg19 7p22.3-21.3(chr7:2789546-9066894)x3
GRCh37/hg19 7q11.22(chr7:69867672-69957025)x1
GRCh37/hg19 7q11.23(chr7:72722981-74141840)x1
GRCh37/hg19 7q11.23(chr7:72722981-74141840)x3
GRCh37/hg19 7q11.23(chr7:72722981-74217390)x1
GRCh37/hg19 7q32.3-36.3(chr7:131414604-159126310)x1
GRCh37/hg19 8p23.1(chr8:7881478-11860845)x1
GRCh37/hg19 8p23.3-23.1(chr8:164984-11860845)x3
GRCh37/hg19 8q11.23-12.3(chr8:53436131-65195953)x3
GRCh37/hg19 8q13.3(chr8:72211317-72226125)x1
GRCh37/hg19 9q22.31-31.2(chr9:96126075-108535272)x1
GRCh37/hg19 Xp22.12(chrX:20179739-20938979)x1
GRCh37/hg19 Xp22.31(chrX:6430651-8034993)x1
GRCh37/hg19 Xp22.31(chrX:6451799-8141017)x1
GRCh37/hg19 Xp22.31(chrX:6456940-8135053)x0
GRCh37/hg19 Xp22.31(chrX:6962965-7745286)x0
GRCh37/hg19 Xp22.33-11.22(chrX:60814-50519984)x1
GRCh37/hg19 Xp22.33-22.31(chrX:60814-6043278)x0
GRCh37/hg19 Xq25(chrX:122805421-124676455)x3
GRCh37/hg19 Xq28(chrX:153576750-154563104)x1
GRCh37/hg19 Xq28(chrX:154051891-155236747)x3
GRCh37/hg19 Xq28(chrX:154130223-154563104)x3

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