List of variants reported as pathogenic for autosomal recessive Robinow syndrome by OMIM

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Total variants: 7

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HGVS	dbSNP	gnomAD frequency
NM_004560.4(ROR2):c.1504C>T (p.Gln502Ter)	rs121909083
NM_004560.4(ROR2):c.1937_1943del (p.Tyr646fs)	rs863223291
NM_004560.4(ROR2):c.2160G>A (p.Trp720Ter)	rs121909085
NM_004560.4(ROR2):c.355C>T (p.Arg119Ter)	rs121909087
NM_004560.4(ROR2):c.550C>T (p.Arg184Cys)	rs121909084
NM_004560.4(ROR2):c.613C>T (p.Arg205Ter)	rs121909086
NM_004560.4(ROR2):c.622+762_1184-1036del

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