List of variants reported as pathogenic for autosomal recessive omodysplasia by OMIM

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Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NC_000013.11:g.93997007_94063501del66495insATAAATCACTTAGAGATGT
NC_000013.11:g.94252984_94352299del99316insCTA
NM_005708.3(GPC6):c.320_711del
NM_005708.3(GPC6):c.712_877dup
NM_005708.5(GPC6):c.700C>T (p.Arg234Ter)	rs121908440
NM_005708.5(GPC6):c.778del (p.Leu260fs)	rs863223282

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