ClinVar Miner

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

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Total variants: 40
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HGVS dbSNP gnomAD frequency
GRCh37/hg19 12q12(chr12:42871679-42898233)x1
GRCh37/hg19 12q13.13(chr12:51946335-52024220)x1
GRCh37/hg19 15q13.2-13.3(chr15:30936285-32514341)x3
GRCh37/hg19 16p11.2(chr16:28825605-29043450)x3
GRCh37/hg19 16p13.11(chr16:14968859-16291983)x3
GRCh37/hg19 16p13.11(chr16:14975292-16291099)x3
GRCh37/hg19 16p13.11-12.3(chr16:15499057-18264837)x4
GRCh37/hg19 18p11.21(chr18:12362219-12423408)x1
GRCh37/hg19 18q21.2(chr18:53269093-53321026)x1
GRCh37/hg19 1p34.2(chr1:41343608-43121507)x1
GRCh37/hg19 1p36.22(chr1:11053101-11336968)x1
GRCh37/hg19 1q21.1(chr1:145416056-146089268)x3
GRCh37/hg19 20p11.22-11.21(chr20:21680345-24383453)x1
GRCh37/hg19 22q11.21(chr22:21062168-21463730)x1
GRCh37/hg19 22q11.21(chr22:21062566-21463730)x1
GRCh37/hg19 22q11.21(chr22:21069073-21463730)x1
GRCh37/hg19 22q11.22-11.23(chr22:22989304-23666474)x1
GRCh37/hg19 22q13.1(chr22:38431917-39392250)x1
GRCh37/hg19 22q13.31(chr22:46421842-46964908)x1
GRCh37/hg19 2q11.1-11.2(chr2:96737083-98261802)x1
GRCh37/hg19 2q11.1-11.2(chr2:96747466-98193473)x1
GRCh37/hg19 2q14.3-21.2(chr2:122952356-133826358)x1
GRCh37/hg19 2q23.1(chr2:148942537-149035397)x1
GRCh37/hg19 3p13(chr3:71129956-71255015)x1
GRCh37/hg19 4q24(chr4:101953182-102026137)x1
GRCh37/hg19 4q31.23(chr4:149135444-149320303)x3
GRCh37/hg19 5q14.3-21.3(chr5:87792844-109221844)x3
GRCh37/hg19 7p22.1(chr7:4644965-5436368)x3
GRCh37/hg19 7q22.1(chr7:99593346-102470275)x1
GRCh37/hg19 9p23(chr9:13759474-14144821)x1
GRCh37/hg19 Xp22.31(chrX:6179830-8605251)x2
GRCh37/hg19 Xp22.31(chrX:6450700-8138035)x2
GRCh37/hg19 Xp22.31(chrX:6458166-8135053)x2
GRCh37/hg19 Xp22.31(chrX:6476350-8135053)x3
GRCh37/hg19 Xp22.31(chrX:6596639-8135053)x3
GRCh37/hg19 Xp22.33(chrX:293493-568604)x3
GRCh37/hg19 Xp22.33(chrX:434857-979904)x3
GRCh37/hg19 Xp22.33(chrX:60814-594144)x3
GRCh37/hg19 Xq28(chrX:154256858-154297348)x0
GRCh37/hg19 Yq11.223(chrY:24007925-24891486)x0

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