List of variants studied for Schimke immuno-osseous dysplasia by Genome-Nilou Lab

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Total variants: 11

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HGVS	dbSNP	gnomAD frequency
NM_014140.4(SMARCAL1):c.2528+68T>C	rs284523	0.36760
NM_014140.4(SMARCAL1):c.2071-136T>C	rs2129119	0.30191
NM_014140.4(SMARCAL1):c.1711-132G>A	rs2738284	0.24087
NM_014140.4(SMARCAL1):c.1852-153A>G	rs66931264	0.09543
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.423T>C (p.Tyr141=)	rs35907255	0.00906
NM_014140.4(SMARCAL1):c.927C>T (p.Ser309=)	rs139949668	0.00006
NM_014140.4(SMARCAL1):c.1711-111G>T	rs284550
NM_014140.4(SMARCAL1):c.811+38del	rs5838583

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