List of variants reported as pathogenic for autosomal recessive osteopetrosis 1 by Fulgent Genetics, Fulgent Genetics

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Total variants: 6

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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.117+4A>T	rs751881962
NM_006019.4(TCIRG1):c.1684C>T (p.Gln562Ter)	rs1855655612
NM_006019.4(TCIRG1):c.2236C>T (p.Gln746Ter)	rs748659068
NM_006019.4(TCIRG1):c.242del (p.Pro81fs)	rs1208311085

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