ClinVar Miner

List of variants in gene IDH1 reported as likely pathogenic for adrenal carcinoma

Included ClinVar conditions (7):

Adenoid cystic carcinoma
Adrenal cortex carcinoma
Adrenocortical carcinoma, hereditary
Adrenocortical carcinoma, hereditary; Familial cancer of breast; Glioma susceptibility 1; Bone osteosarcoma; Li-Fraumeni syndrome 1; Nasopharyngeal carcinoma; Carcinoma of pancreas; Choroid plexus papilloma; Basal cell carcinoma, susceptibility to, 7; Hepatocellular carcinoma; Colorectal cancer; Bone marrow failure syndrome 5
Adrenocortical carcinoma, hereditary; Familial cancer of breast; Glioma susceptibility 1; Bone osteosarcoma; Li-Fraumeni syndrome 1; Nasopharyngeal carcinoma; Carcinoma of pancreas; Choroid plexus papilloma; Carcinoma of colon; Basal cell carcinoma, susceptibility to, 7; Hepatocellular carcinoma
Adrenocortical carcinoma, hereditary; Glioma susceptibility 1; Li-Fraumeni syndrome 1; Choroid plexus papilloma; Basal cell carcinoma, susceptibility to, 7; Colorectal cancer; Bone marrow failure syndrome 5
Gastrointestinal carcinoma; Adrenal cortex carcinoma

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_005896.4(IDH1):c.394C>T (p.Arg132Cys)	rs121913499	0.00001
NM_005896.4(IDH1):c.395G>A (p.Arg132His)	rs121913500	0.00001
NM_005896.4(IDH1):c.394C>A (p.Arg132Ser)	rs121913499
NM_005896.4(IDH1):c.394C>G (p.Arg132Gly)	rs121913499
NM_005896.4(IDH1):c.395G>T (p.Arg132Leu)	rs121913500

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