ClinVar Miner

List of variants reported as pathogenic for Schimke immuno-osseous dysplasia by Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare

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Total variants: 3

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HGVS	dbSNP
NM_001127207.2(SMARCAL1):c.2542G>T (p.Glu848Ter)	rs119473033
NM_014140.3(SMARCAL1):c.2114C>T (p.Thr705Ile)	rs200644381
NM_014140.4(SMARCAL1):c.2427+1G>A	rs1559138455

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