ClinVar Miner

List of variants in gene KLLN, PTEN studied for glioma susceptibility 2

Included ClinVar conditions (5):

Endometrial carcinoma; Macrocephaly-autism syndrome; Familial meningioma; Squamous cell carcinoma of the head and neck; Bannayan-Riley-Ruvalcaba syndrome; Malignant tumor of prostate; Thyroid cancer, nonmedullary, 2; VACTERL with hydrocephalus; Glioma susceptibility 2; Cowden syndrome 1; Melanoma, cutaneous malignant, susceptibility to, 1
Glioma susceptibility 2
Macrocephaly-autism syndrome; Familial meningioma; Glioma susceptibility 2; Familial prostate cancer; Cowden syndrome 1
Macrocephaly-autism syndrome; Familial meningioma; Malignant tumor of prostate; Glioma susceptibility 2; Cowden syndrome 1
Macrocephaly-autism syndrome; Familial meningioma; Malignant tumor of prostate; VACTERL with hydrocephalus; Glioma susceptibility 2; PTEN hamartoma tumor syndrome; Cowden syndrome 1

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_001126049.2(KLLN):c.-792C>T	rs587779982	0.00044
NM_000314.8(PTEN):c.-1206G>A	rs961642255	0.00011
NM_001126049.2(KLLN):c.-806A>C	rs587782761	0.00004
NM_001126049.2(KLLN):c.-845C>T	rs587782068	0.00003
NM_000314.4(PTEN):c.-1154G>A	rs786203674
NM_000314.4(PTEN):c.-1246C>G	rs1554889801

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