ClinVar Miner

List of variants studied for autosomal dominant osteopetrosis 2 by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (3):

Autosomal dominant osteopetrosis 2
Autosomal dominant osteopetrosis 2; Autosomal recessive osteopetrosis 4
Autosomal dominant osteopetrosis 2; Autosomal recessive osteopetrosis 4; Hypopigmentation, organomegaly, and delayed myelination and development

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
		ClinVar version:

Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_001287.6(CLCN7):c.141+19C>G	rs547168471	0.00082
NM_001287.6(CLCN7):c.812G>A (p.Arg271Gln)	rs541169535	0.00007
NM_001287.6(CLCN7):c.871G>A (p.Ala291Thr)	rs923808258	0.00004
NM_001287.6(CLCN7):c.1797+4C>T	rs200682842

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