ClinVar Miner

List of variants reported as likely pathogenic for autoimmune lymphoproliferative syndrome type 4

Included ClinVar conditions (6):

Autoimmune lymphoproliferative syndrome type 4
Familial cancer of breast; Hereditary diffuse gastric adenocarcinoma; Lung carcinoma; Noonan syndrome 3; Linear nevus sebaceous syndrome; Cerebral arteriovenous malformation; Malignant tumor of urinary bladder; Carcinoma of pancreas; Autoimmune lymphoproliferative syndrome type 4; Acute myeloid leukemia; Cardiofaciocutaneous syndrome 2
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
Large congenital melanocytic nevus; Neurocutaneous melanocytosis; Linear nevus sebaceous syndrome; Epidermal nevus; Thyroid cancer, nonmedullary, 2; Noonan syndrome 6; Autoimmune lymphoproliferative syndrome type 4; Colorectal cancer
Noonan syndrome 3; Autoimmune lymphoproliferative syndrome type 4; Acute myeloid leukemia; Cardiofaciocutaneous syndrome 2
Noonan syndrome 3; Linear nevus sebaceous syndrome; Autoimmune lymphoproliferative syndrome type 4; Acute myeloid leukemia; Cardiofaciocutaneous syndrome 2

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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
NM_002524.5(NRAS):c.38G>A (p.Gly13Asp)	rs121434596
NM_004985.5(KRAS):c.37G>T (p.Gly13Cys)	rs121913535
NM_033360.4(KRAS):c.355G>A (p.Asp119Asn)	rs730880471

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