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

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Total variants: 32

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HGVS	dbSNP	gnomAD frequency
NM_006019.4(TCIRG1):c.117+1G>A	rs377303800	0.00002
NM_006019.4(TCIRG1):c.1555-2A>C	rs758977199	0.00002
NM_006019.4(TCIRG1):c.-5+1G>T	rs917505107	0.00001
NM_006019.4(TCIRG1):c.346C>T (p.Gln116Ter)	rs1338631330	0.00001
NM_006019.4(TCIRG1):c.979C>T (p.Arg327Ter)	rs749361897	0.00001
NM_006019.4(TCIRG1):c.1024G>T (p.Glu342Ter)	rs1159666762
NM_006019.4(TCIRG1):c.1118del (p.Gly373fs)	rs1269558164
NM_006019.4(TCIRG1):c.117+4A>T	rs751881962
NM_006019.4(TCIRG1):c.1305+2T>C	rs1554997818
NM_006019.4(TCIRG1):c.1306-1G>A	rs1554997884
NM_006019.4(TCIRG1):c.1385dup (p.Asn462fs)	rs1554997997
NM_006019.4(TCIRG1):c.1435_1438dup (p.Ala480fs)	rs1554998061
NM_006019.4(TCIRG1):c.1554+1G>T	rs1439348400
NM_006019.4(TCIRG1):c.1559G>A (p.Trp520Ter)	rs1057517365
NM_006019.4(TCIRG1):c.1887+1G>C	rs1554999205
NM_006019.4(TCIRG1):c.1889_1890dup (p.Val631fs)	rs1554999516
NM_006019.4(TCIRG1):c.1891del (p.Val631fs)	rs1300297240
NM_006019.4(TCIRG1):c.205C>T (p.Gln69Ter)	rs1554995009
NM_006019.4(TCIRG1):c.2415-2A>G	rs1555000376
NM_006019.4(TCIRG1):c.242del (p.Pro81fs)	rs1208311085
NM_006019.4(TCIRG1):c.303_309del (p.Glu102fs)	rs886048594
NM_006019.4(TCIRG1):c.466C>T (p.Gln156Ter)	rs1554995330
NM_006019.4(TCIRG1):c.479_480delinsT (p.Gly160fs)	rs1554995350
NM_006019.4(TCIRG1):c.480dup (p.Pro161fs)	rs1554995341
NM_006019.4(TCIRG1):c.487C>T (p.Gln163Ter)	rs1385741705
NM_006019.4(TCIRG1):c.503+1G>A	rs1554995381
NM_006019.4(TCIRG1):c.557_570del (p.Leu186fs)	rs1554995522
NM_006019.4(TCIRG1):c.630+1G>T	rs1554995582
NM_006019.4(TCIRG1):c.690_706dup (p.Thr236fs)	rs1554995706
NM_006019.4(TCIRG1):c.713+1G>C	rs774308815
NM_006019.4(TCIRG1):c.713+1G>T	rs774308815
NM_006019.4(TCIRG1):c.807+1G>T	rs1458295257

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