ClinVar Miner

List of variants reported as likely pathogenic by Clinical Genetics, Erasmus University Medical Center

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Total variants: 10
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GRCh37/hg19 11p15.4(chr11:4371631-5253127)
GRCh37/hg19 15q13.3(chr15:32457092-32771537)
GRCh37/hg19 16p13.11-12.3(chr16:14985615-17000304)
GRCh37/hg19 22q11.21(chr22:18637139-20289862)
GRCh37/hg19 2q13(chr2:111186302-113273657)
GRCh37/hg19 4q28.1(chr4:125251081-128286629)
GRCh37/hg19 4q35.2(chr4:187540292-187849681)
GRCh37/hg19 6p22.3(chr6:20884837-21082258)
NM_000168.6(GLI3):c.2119C>T (p.Pro707Ser) rs121917716
NM_002181.4(IHH):c.151C>A (p.Gln51Lys) rs1553540620

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