ClinVar Miner

List of variants reported as pathogenic for specific granule deficiency 2 by OMIM

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_001098426.2(SMARCD2):c.1181+1G>A rs1057518731
NM_001098426.2(SMARCD2):c.401+2T>C rs1057518733
NM_001098426.2(SMARCD2):c.414_438dup (p.Gln147delinsGluAspGlyArgTer) rs1555580263
NM_001098426.2(SMARCD2):c.511C>T (p.Gln171Ter) rs2144633398
NM_001098426.2(SMARCD2):c.93del (p.Ala32fs) rs1379892630

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