ClinVar Miner

List of variants studied for chromosomal disorder by Department of Rehabilitation Medicine, Incheon St. Mary’s Hospital, College of Medicine, The Catholic University of Korea

Included ClinVar conditions (195):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 25
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HGVS dbSNP gnomAD frequency
GRCh37/hg19 10p13-q26.3(chr10:12829206-135427143)
GRCh37/hg19 10p14-q26.3(chr10:11138692-135427143)
GRCh37/hg19 10q25.1-26.3(chr10:111378692-135427143)x3
GRCh37/hg19 10q26.13-26.3(chr10:123477898-135427143)
GRCh37/hg19 10q26.2-26.3(chr10:128289206-135427143)x1
GRCh37/hg19 11p15.5(chr11:268586-748873)
GRCh37/hg19 15q11.2(chr15:22770421-23195725)
GRCh37/hg19 15q11.2(chr15:22770421-23282799)
GRCh37/hg19 15q11.2-13.2(chr15:22770421-30386398)
GRCh37/hg19 15q13.2-13.3(chr15:31073735-32446830)
GRCh37/hg19 15q24.1-24.2(chr15:72943184-76085232)
GRCh37/hg19 17q11.2-12(chr17:30572862-35843988)
GRCh37/hg19 17q25.1(chr17:72718277-74142256)
GRCh37/hg19 18q22.1-23(chr18:66057406-78014123)
GRCh37/hg19 1p36.33-36.31(chr1:1957148-6553454)
GRCh37/hg19 1q21.1(chr1:145382123-145792051)
GRCh37/hg19 22q11.21(chr22:18916842-20311810)
GRCh37/hg19 4p16.3-15.1(chr4:68345-34512694)
GRCh37/hg19 6q21-22.31(chr6:112713854-124105184)
GRCh37/hg19 7q11.23(chr7:72664461-74162586)
GRCh37/hg19 7q11.23(chr7:72718277-74142256)
GRCh37/hg19 8q24.13-24.21(chr8:124534271-129054138)x4
GRCh37/hg19 8q24.21-24.3(chr8:131138343-143473913)
NM_022455.5(NSD1):c.1492C>T (p.Arg498Ter) rs1581315609
NM_022455.5(NSD1):c.2645C>G (p.Ser882Ter) rs2149845949

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