List of variants in gene OSTM1 reported as uncertain significance for Osteopetrosis

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 7

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HGVS	dbSNP	gnomAD frequency
NM_014028.4(OSTM1):c.*2517del	rs886060961	0.00008
NM_014028.4(OSTM1):c.*1932dup	rs74900179
NM_014028.4(OSTM1):c.*2351del	rs886060962
NM_014028.4(OSTM1):c.*2370dup	rs58798743
NM_014028.4(OSTM1):c.*2488del	rs879213270
NM_014028.4(OSTM1):c.2515_2516del	rs562640840
NM_014028.4(OSTM1):c.2517_2518del	rs886060960

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