ClinVar Miner

List of variants reported as pathogenic for pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4 by Labcorp Genetics (formerly Invitae), Labcorp

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 38
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HGVS dbSNP gnomAD frequency
NM_002582.4(PARN):c.272A>G (p.Tyr91Cys) rs201765587 0.00009
NM_002582.4(PARN):c.1749_1750del (p.Glu585fs) rs1194089098 0.00006
NM_002582.4(PARN):c.382C>T (p.Arg128Ter) rs1318821563 0.00001
NM_002582.4(PARN):c.657G>A (p.Trp219Ter) rs1363931577 0.00001
NM_002582.4(PARN):c.948_949del (p.Val318fs) rs1461036243 0.00001
NC_000016.9:g.(?_14530574)_(14724045_?)del
NC_000016.9:g.(?_14645858)_(14711527_?)del
NC_000016.9:g.(?_14645858)_(14724045_?)del
NC_000016.9:g.(?_14693741)_(14700403_?)del
NC_000016.9:g.(?_14704491)_(14704676_?)del
NC_000016.9:g.(?_14711427)_(14711527_?)del
NC_000016.9:g.(?_14711427)_(14724045_?)del
NC_000016.9:g.(?_14720953)_(14721203_?)del
NM_002582.4(PARN):c.1064del (p.Phe355fs)
NM_002582.4(PARN):c.1123C>T (p.Gln375Ter) rs1380270401
NM_002582.4(PARN):c.1124_1133del (p.Gln375fs) rs1969578006
NM_002582.4(PARN):c.122_123del (p.Ser41fs)
NM_002582.4(PARN):c.1257del (p.Phe419fs) rs942538351
NM_002582.4(PARN):c.1363G>T (p.Glu455Ter)
NM_002582.4(PARN):c.1414C>T (p.Gln472Ter)
NM_002582.4(PARN):c.1536del (p.Glu511_Tyr512insTer)
NM_002582.4(PARN):c.1577G>A (p.Trp526Ter)
NM_002582.4(PARN):c.1624C>T (p.Gln542Ter) rs745696590
NM_002582.4(PARN):c.1645C>T (p.Gln549Ter)
NM_002582.4(PARN):c.177+1del
NM_002582.4(PARN):c.24dup (p.Lys9Ter)
NM_002582.4(PARN):c.305dup (p.Asp103fs)
NM_002582.4(PARN):c.351_352dup (p.Ser118fs)
NM_002582.4(PARN):c.417_420del (p.Glu139fs) rs2151797695
NM_002582.4(PARN):c.529C>T (p.Gln177Ter) rs876661305
NM_002582.4(PARN):c.563dup (p.Glu189fs) rs878853260
NM_002582.4(PARN):c.643C>T (p.Gln215Ter)
NM_002582.4(PARN):c.709C>T (p.Arg237Ter) rs760506977
NM_002582.4(PARN):c.713dup (p.Tyr238Ter) rs1971048225
NM_002582.4(PARN):c.714del (p.Arg237_Tyr238insTer)
NM_002582.4(PARN):c.758_759del (p.Glu253fs) rs2151787383
NM_002582.4(PARN):c.925del (p.Ser309fs)
NM_002582.4(PARN):c.994C>T (p.Gln332Ter)

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