List of variants reported as likely pathogenic for Schimke immuno-osseous dysplasia by Revvity Omics, Revvity

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Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_014140.4(SMARCAL1):c.836T>C (p.Phe279Ser)	rs775057827	0.00006
NM_014140.4(SMARCAL1):c.1439C>T (p.Pro480Leu)	rs758367100	0.00001
NM_014140.4(SMARCAL1):c.1934G>A (p.Arg645His)	rs1281345070	0.00001
NM_014140.4(SMARCAL1):c.223_239del (p.Gln74_Asn75insTer)

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