List of variants reported as uncertain significance for autosomal recessive osteopetrosis 1 by Revvity Omics, Revvity

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Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_006019.4(TCIRG1):c.1096C>T (p.Arg366Cys)	rs148619884	0.00035
NM_006019.4(TCIRG1):c.59C>T (p.Ala20Val)	rs377034463	0.00002
NM_006019.4(TCIRG1):c.1228G>A (p.Gly410Arg)
NM_006019.4(TCIRG1):c.961G>A (p.Glu321Lys)

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