ClinVar Miner

List of variants reported as benign for Schimke immuno-osseous dysplasia by Invitae

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Total variants: 18
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NM_014140.3(SMARCAL1):c.1129G>C (p.Glu377Gln) rs2066518
NM_014140.3(SMARCAL1):c.1212G>A (p.Ala404=) rs2066525
NM_014140.3(SMARCAL1):c.1243A>G (p.Ser415Gly) rs58848916
NM_014140.3(SMARCAL1):c.1271A>T (p.Asp424Val) rs2066520
NM_014140.3(SMARCAL1):c.127G>A (p.Ala43Thr) rs2066524
NM_014140.3(SMARCAL1):c.1947C>T (p.Asp649=) rs2066526
NM_014140.3(SMARCAL1):c.1995C>T (p.Ala665=) rs151241914
NM_014140.3(SMARCAL1):c.2226G>A (p.Thr742=) rs2271335
NM_014140.3(SMARCAL1):c.340C>G (p.Arg114Gly) rs202031614
NM_014140.3(SMARCAL1):c.341G>A (p.Arg114His) rs11555797
NM_014140.3(SMARCAL1):c.423T>C (p.Tyr141=) rs35907255
NM_014140.3(SMARCAL1):c.603G>C (p.Gly201=) rs35048226
NM_014140.3(SMARCAL1):c.72A>G (p.Arg24=) rs199805770
NM_014140.3(SMARCAL1):c.901C>G (p.Pro301Ala) rs146084305
NM_014140.3(SMARCAL1):c.945C>G (p.Ser315Arg) rs2066522
NM_014140.3(SMARCAL1):c.960C>T (p.Ala320=) rs2066513
NM_014140.4(SMARCAL1):c.1534G>A (p.Val512Met) rs35087810
NM_014140.4(SMARCAL1):c.2649C>T (p.Tyr883=) rs182217350

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