ClinVar Miner

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

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Total variants: 16
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HGVS dbSNP
NM_002582.4(PARN):c.1131C>T (p.His377=) rs200644588
NM_002582.4(PARN):c.1193-8T>G rs372257813
NM_002582.4(PARN):c.1377C>T (p.Ser459=) rs530411927
NM_002582.4(PARN):c.1405+8G>A rs373527624
NM_002582.4(PARN):c.1406-9C>T rs530099133
NM_002582.4(PARN):c.1413T>C (p.Ile471=) rs371869778
NM_002582.4(PARN):c.1434C>T (p.Asp478=) rs368012289
NM_002582.4(PARN):c.1464C>T (p.Pro488=) rs61748886
NM_002582.4(PARN):c.1572A>G (p.Arg524=) rs370717086
NM_002582.4(PARN):c.1635C>G (p.Pro545=) rs372937126
NM_002582.4(PARN):c.1782C>T (p.Thr594=) rs187555579
NM_002582.4(PARN):c.1865-9T>C rs768874362
NM_002582.4(PARN):c.1874C>T (p.Ser625Leu) rs201963032
NM_002582.4(PARN):c.389-8G>A rs200322751
NM_002582.4(PARN):c.703-6T>C rs370304152
NM_002582.4(PARN):c.877G>A (p.Val293Ile) rs758441481

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