List of variants reported as pathogenic for Schimke immuno-osseous dysplasia by OMIM

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Total variants: 8

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HGVS	dbSNP	gnomAD frequency
NM_014140.4(SMARCAL1):c.2542G>T (p.Glu848Ter)	rs119473033	0.00013
NM_014140.4(SMARCAL1):c.2291G>A (p.Arg764Gln)	rs267607071	0.00002
NM_014140.4(SMARCAL1):c.1756C>T (p.Arg586Trp)	rs119473038	0.00001
NM_014140.4(SMARCAL1):c.1933C>T (p.Arg645Cys)	rs119473037	0.00001
NM_014140.4(SMARCAL1):c.49C>T (p.Arg17Ter)	rs119473034	0.00001
NM_014140.4(SMARCAL1):c.100C>T (p.Gln34Ter)	rs119473035
NM_014140.4(SMARCAL1):c.1146_1147+2del	rs1574450161
NM_014140.4(SMARCAL1):c.1643T>A (p.Ile548Asn)	rs119473036

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