List of variants reported as likely pathogenic for Autosomal recessive osteopetrosis 1 by Myriad Genetics, Inc.

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Total variants: 11

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HGVS	dbSNP	gnomAD frequency
NM_006019.4(TCIRG1):c.1158_1159del (p.Asn387fs)	rs2495632672
NM_006019.4(TCIRG1):c.1323_1324del (p.Phe441fs)	rs2495646107
NM_006019.4(TCIRG1):c.1419del (p.Ser474fs)	rs2495647470
NM_006019.4(TCIRG1):c.1567del (p.Ala523fs)	rs2495655889
NM_006019.4(TCIRG1):c.1722del (p.Thr575fs)	rs2495658074
NM_006019.4(TCIRG1):c.1812del (p.Ser605fs)	rs2495659079
NM_006019.4(TCIRG1):c.1884del (p.Gln629fs)	rs2495659749
NM_006019.4(TCIRG1):c.1978del (p.Arg660fs)	rs2134462969
NM_006019.4(TCIRG1):c.723C>A (p.Cys241Ter)	rs2495623626
NM_006019.4(TCIRG1):c.751_752insGTATGGGG (p.Glu251fs)	rs2495623863
NM_006019.4(TCIRG1):c.766del (p.Ala256fs)	rs2495624005

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