ClinVar Miner

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

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Total variants: 5
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NM_002582.4(PARN):c.1124_1133del (p.Gln375fs)
NM_002582.4(PARN):c.563dup (p.Glu189fs) rs878853260
NM_002582.4(PARN):c.657G>A (p.Trp219Ter)
NM_002582.4(PARN):c.709C>T (p.Arg237Ter)
NM_002582.4(PARN):c.713dup (p.Tyr238Ter)

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