ClinVar Miner

List of variants reported as likely pathogenic for Robinow syndrome, autosomal recessive

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Total variants: 19
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GRCh37/hg19 9q22.31(chr9:94381136-94851388)x1
GRCh37/hg19 9q22.31(chr9:94499721-94518293)x1
NM_004560.4(ROR2):c.1096C>T (p.Arg366Trp)
NM_004560.4(ROR2):c.1100A>T (p.Asn367Ile)
NM_004560.4(ROR2):c.1516A>T (p.Ile506Phe)
NM_004560.4(ROR2):c.1565_1569delinsTGTA (p.Arg522fs) rs1587655016
NM_004560.4(ROR2):c.1855C>A (p.Arg619Ser)
NM_004560.4(ROR2):c.1970G>A (p.Arg657His) rs529829552
NM_004560.4(ROR2):c.2074C>A (p.Pro692Thr)
NM_004560.4(ROR2):c.2207G>A (p.Arg736Gln)
NM_004560.4(ROR2):c.2215T>C (p.Phe739Leu)
NM_004560.4(ROR2):c.248G>A (p.Cys83Tyr)
NM_004560.4(ROR2):c.323G>A (p.Arg108Gln) rs1587690611
NM_004560.4(ROR2):c.717C>A (p.Cys239Ter)
NM_004560.4(ROR2):c.899G>T (p.Cys300Phe)
NM_004560.4(ROR2):c.904C>T (p.Arg302Cys) rs767372181
NM_004560.4(ROR2):c.950A>G (p.Tyr317Cys)

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