ClinVar Miner

List of variants reported as uncertain significance for Toriello-Lacassie-Droste syndrome by OMIM

Included ClinVar conditions (5):

Familial cancer of breast; Noonan syndrome 3; Linear nevus sebaceous syndrome; Toriello-Lacassie-Droste syndrome; Cerebral arteriovenous malformation; Malignant tumor of urinary bladder; Autoimmune lymphoproliferative syndrome type 4; Acute myeloid leukemia; Cardiofaciocutaneous syndrome 2; Familial pancreatic carcinoma; Gastric cancer; Lung cancer
Familial cancer of breast; Noonan syndrome 3; Linear nevus sebaceous syndrome; Toriello-Lacassie-Droste syndrome; Cerebral arteriovenous malformation; Malignant tumor of urinary bladder; Carcinoma of pancreas; Autoimmune lymphoproliferative syndrome type 4; Acute myeloid leukemia; Cardiofaciocutaneous syndrome 2; Gastric cancer; Lung cancer
Noonan syndrome 3; Toriello-Lacassie-Droste syndrome
OCULOECTODERMAL SYNDROME, SOMATIC
Toriello-Lacassie-Droste syndrome

Minimum submission review status:		Collection method:
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: 3

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HGVS	dbSNP	gnomAD frequency
NC_000019.10:g.56040975T>C	rs202181446	0.00037
NC_000019.10:g.56032687C>T	rs200446614	0.00008
NM_015041.3(CLUAP1):c.817C>T (p.Leu273Phe)	rs751218423

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