List of variants reported as pathogenic 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.1674-1G>A	rs139617644	0.00019
NM_006019.4(TCIRG1):c.2236+1G>A	rs1475338876	0.00004
NM_006019.4(TCIRG1):c.1554+2T>A	rs761918801	0.00003
NM_006019.4(TCIRG1):c.117+1G>A	rs377303800	0.00002

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