ClinVar Miner

List of variants reported as pathogenic for Schimke immuno-osseous dysplasia

Included ClinVar conditions (1):
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Total variants: 16
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HGVS dbSNP
NC_000002.11:g.(?_217279418)_(217281040_?)del
NM_001127207.2(SMARCAL1):c.2542G>T (p.Glu848Ter) rs119473033
NM_014140.3(SMARCAL1):c.100C>T (p.Gln34Ter) rs119473035
NM_014140.3(SMARCAL1):c.1132G>T (p.Glu378Ter) rs864309531
NM_014140.3(SMARCAL1):c.1190del (p.Leu397fs) rs766291662
NM_014140.3(SMARCAL1):c.1248dup (p.Thr417fs)
NM_014140.3(SMARCAL1):c.1643T>A (p.Ile548Asn) rs119473036
NM_014140.3(SMARCAL1):c.1756C>T (p.Arg586Trp) rs119473038
NM_014140.3(SMARCAL1):c.1933C>T (p.Arg645Cys) rs119473037
NM_014140.3(SMARCAL1):c.2291G>A (p.Arg764Gln) rs267607071
NM_014140.3(SMARCAL1):c.2321C>A (p.Ser774Ter) rs149425324
NM_014140.3(SMARCAL1):c.2427+1G>A rs1559138455
NM_014140.3(SMARCAL1):c.268_269CA[1] (p.His90fs)
NM_014140.3(SMARCAL1):c.49C>T (p.Arg17Ter) rs119473034
NM_014140.3(SMARCAL1):c.863-2A>G
SMARCAL1, 4-BP DEL, 1146AAGT

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