List of variants reported as pathogenic for autosomal recessive osteopetrosis 1 by OMIM

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Total variants: 7

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HGVS	dbSNP	gnomAD frequency
NM_006019.4(TCIRG1):c.1213G>A (p.Gly405Arg)	rs137853150	0.00007
NM_006019.4(TCIRG1):c.1331G>T (p.Arg444Leu)	rs137853151	0.00006
NM_006019.4(TCIRG1):c.1674G>A (p.Val558=)	rs745971874	0.00001
NM_001351059.2(TCIRG1):c.-262_-237del	rs2134438856
NM_006019.4(TCIRG1):c.117+4A>T	rs751881962
NM_006019.4(TCIRG1):c.1392C>A (p.Cys464Ter)	rs137853149
NM_006019.4(TCIRG1):c.922del (p.Gln308fs)	rs1554996130

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