ClinVar Miner

List of variants studied for Schimke immuno-osseous dysplasia by OMIM

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
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Total variants: 8
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HGVS dbSNP
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.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.49C>T (p.Arg17Ter) rs119473034
SMARCAL1, 4-BP DEL, 1146AAGT

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