List of variants reported as pathogenic for Rhizomelic chondrodysplasia punctata type 2 by OMIM

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Total variants: 9

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HGVS	dbSNP	gnomAD frequency
NM_014236.4(GNPAT):c.1556A>G (p.Asp519Gly)	rs11558492	0.15945
NM_014236.4(GNPAT):c.1280-3T>G	rs1571955307	0.00001
NM_014236.4(GNPAT):c.631C>T (p.Arg211Cys)	rs121434440	0.00001
NM_014236.4(GNPAT):c.632G>A (p.Arg211His)	rs121434439	0.00001
NM_014236.4(GNPAT):c.1429_1430del (p.Met477fs)	rs1571955597
NM_014236.4(GNPAT):c.1575del (p.Phe525fs)	rs1571957148
NM_014236.4(GNPAT):c.1937+5G>A	rs1571960363
NM_014236.4(GNPAT):c.780del (p.Asn261fs)	rs1571950208
NM_014236.4(GNPAT):c.849_850dup (p.Tyr284fs)	rs1558334625

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