ClinVar Miner

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

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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NM_001127207.2(SMARCAL1):c.2542G>T (p.Glu848Ter) rs119473033
NM_014140.3(SMARCAL1):c.1384_1389dup (p.Leu462_Gly463dup) rs1553526162
NM_014140.3(SMARCAL1):c.2114C>T (p.Thr705Ile) rs200644381
NM_014140.4(SMARCAL1):c.1147+8G>A rs759562755
NM_014140.4(SMARCAL1):c.2427+1G>A rs1559138455

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