ClinVar Miner

List of variants reported as pathogenic for pancytopenia

Included ClinVar conditions (6):

Anemia; Pancytopenia; Bone marrow hypocellularity
Autism; Epicanthus; Fetal growth restriction; Failure to thrive in infancy; Pancytopenia; Triangular face; High forehead; Small for gestational age; Macrocytic anemia; Attention deficit hyperactivity disorder
Pancytopenia
Pancytopenia; Arthritis; Abnormal autonomic nervous system physiology; Gastrointestinal dysmotility; Polyarticular arthritis; Sinus tachycardia; Chronic pain; Inappropriate sinus tachycardia
Pancytopenia; Bone marrow hypocellularity
Pectus excavatum; Acute myeloid leukemia; Short stature; Cognitive impairment; Webbed neck; Pancytopenia; Abnormality of the tongue

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Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_000371.4(TTR):c.424G>A (p.Val142Ile)	rs76992529	0.00501
NM_000098.3(CPT2):c.149C>A (p.Pro50His)	rs28936375	0.00022
NM_000355.4(TCN2):c.428-2A>G	rs2087581122
NM_000546.6(TP53):c.742C>T (p.Arg248Trp)	rs121912651

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