List of variants reported as benign for Schimke immuno-osseous dysplasia by Illumina Laboratory Services, Illumina

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Total variants: 12

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HGVS	dbSNP	gnomAD frequency
NM_014140.4(SMARCAL1):c.-218C>T	rs3755141	0.22352
NM_014140.4(SMARCAL1):c.2070T>C (p.Thr690=)	rs2066527	0.09474
NM_014140.4(SMARCAL1):c.945C>G (p.Ser315Arg)	rs2066522	0.04294
NM_014140.4(SMARCAL1):c.1129G>C (p.Glu377Gln)	rs2066518	0.03294
NM_014140.4(SMARCAL1):c.127G>A (p.Ala43Thr)	rs2066524	0.01441
NM_014140.4(SMARCAL1):c.423T>C (p.Tyr141=)	rs35907255	0.00906
NM_014140.4(SMARCAL1):c.901C>G (p.Pro301Ala)	rs146084305	0.00795
NM_014140.4(SMARCAL1):c.1243A>G (p.Ser415Gly)	rs58848916	0.00775
NM_014140.4(SMARCAL1):c.341G>A (p.Arg114His)	rs11555797	0.00657
NM_014140.4(SMARCAL1):c.72A>G (p.Arg24=)	rs199805770	0.00001
NM_014140.4(SMARCAL1):c.1947C>T (p.Asp649=)	rs2066526
NM_014140.4(SMARCAL1):c.960C>T (p.Ala320=)	rs2066513

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