List of variants reported as likely pathogenic for Dyskeratosis congenita, autosomal recessive 6; Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4

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Total variants: 23

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HGVS	dbSNP	gnomAD frequency
NM_002582.4(PARN):c.1671-1G>T	rs1271398801	0.00001
NC_000016.9:g.(?_14645858)_(14649586_?)dup
NC_000016.9:g.(?_14645868)_(14711517_?)dup
NC_000016.9:g.(?_14693741)_(14704686_?)dup
NC_000016.9:g.(?_14711427)_(14711527_?)dup
NM_002582.4(PARN):c.1005+2T>A	rs2507867198
NM_002582.4(PARN):c.1262+2T>C	rs2507816770
NM_002582.4(PARN):c.1263-11_1269del	rs2151711045
NM_002582.4(PARN):c.1263-1G>A
NM_002582.4(PARN):c.1318+2T>C	rs2507557254
NM_002582.4(PARN):c.1319-2_1319del
NM_002582.4(PARN):c.1405+1G>T	rs1288345334
NM_002582.4(PARN):c.1481-1G>A	rs1412358291
NM_002582.4(PARN):c.1481-2A>G
NM_002582.4(PARN):c.1670+1G>T	rs1963445391
NM_002582.4(PARN):c.177+1G>A
NM_002582.4(PARN):c.328-2A>G	rs2508495416
NM_002582.4(PARN):c.555-2A>G	rs2151795442
NM_002582.4(PARN):c.620+5G>A	rs1971361795
NM_002582.4(PARN):c.758_759del (p.Glu253fs)	rs2151787383
NM_002582.4(PARN):c.784-1G>A	rs1970777169
NM_002582.4(PARN):c.841-2A>G	rs2151767204
NM_002582.4(PARN):c.97+2T>C	rs2508658475

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