ClinVar Miner

List of variants in gene MSH6 reported as benign for ovarian cancer

Included ClinVar conditions (29):

Autosomal recessive juvenile Parkinson disease 2; Ovarian neoplasm; Lung cancer
Familial cancer of breast; Blepharocheilodontic syndrome 1; Endometrial carcinoma; Hereditary diffuse gastric adenocarcinoma; Familial prostate cancer; Ovarian cancer
Familial cancer of breast; Blepharocheilodontic syndrome 1; Endometrial carcinoma; Hereditary diffuse gastric adenocarcinoma; Ovarian neoplasm; Malignant tumor of prostate
Familial cancer of breast; Classic Hodgkin lymphoma; Ovarian neoplasm; Thyroid cancer, nonmedullary, 1
Familial cancer of breast; Fanconi anemia complementation group N; Familial ovarian cancer
Familial cancer of breast; Megalencephaly-capillary malformation-polymicrogyria syndrome; Congenital macrodactylia; Seborrheic keratosis; Epidermal nevus; Ovarian neoplasm; CLAPO syndrome; CLOVES syndrome; Cowden syndrome 5; Hepatocellular carcinoma; Gastric cancer; Colorectal cancer; Lung cancer
Familial cancer of breast; Megalencephaly-capillary malformation-polymicrogyria syndrome; Lung carcinoma; Congenital macrodactylia; Seborrheic keratosis; Epidermal nevus; Ovarian neoplasm; CLAPO syndrome; CLOVES syndrome; Carcinoma of colon; Neoplasm of stomach; Cowden syndrome 5; Hepatocellular carcinoma
Familial cancer of breast; Ovarian neoplasm
Familial cancer of breast; Ovarian neoplasm; Lung cancer
Familial cancer of breast; Proteus syndrome; Ovarian neoplasm; Cowden syndrome 6; Colorectal cancer
Familial ovarian cancer
Familial ovarian carcinoma
Fanconi anemia complementation group J; Familial ovarian cancer
Fanconi anemia complementation group J; Ovarian neoplasm
Hereditary site-specific ovarian cancer syndrome
Leprosy, susceptibility to, 2; Lung carcinoma; Autosomal recessive juvenile Parkinson disease 2; Ovarian neoplasm
Malignant germ cell tumor of ovary
Medulloblastoma; Pilomatrixoma; Ovarian cancer; Severe intellectual disability-progressive spastic diplegia syndrome; Hepatocellular carcinoma; Colorectal cancer; Exudative vitreoretinopathy 7
Medulloblastoma; Pilomatrixoma; Ovarian neoplasm; Carcinoma of colon; Severe intellectual disability-progressive spastic diplegia syndrome; Hepatocellular carcinoma; Exudative vitreoretinopathy 7
Medulloblastoma; Pilomatrixoma; Ovarian neoplasm; Severe intellectual disability-progressive spastic diplegia syndrome; Hepatocellular carcinoma; Colorectal cancer; Exudative vitreoretinopathy 7
Ovarian adenocarcinoma
Ovarian cancer
Ovarian cancer; Malignant tumor of breast
Ovarian carcinoma
Ovarian neoplasm
Ovarian neoplasm; Breast carcinoma
Ovarian neoplasm; Melanoma
Ovarian serous cystadenocarcinoma
Ovarian serous surface papillary adenocarcinoma

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)
		ClinVar version:

Total variants: 11

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HGVS	dbSNP	gnomAD frequency
NM_000179.3(MSH6):c.926C>G (p.Ser309Cys)	rs544222338	0.00006
NM_000179.3(MSH6):c.107C>T (p.Ala36Val)	rs61756469	0.00004
NM_000179.3(MSH6):c.229C>T (p.Arg77Trp)	rs745442468	0.00003
NM_000179.3(MSH6):c.3244C>T (p.Pro1082Ser)	rs186240214	0.00002
NM_000179.3(MSH6):c.727C>T (p.Arg243Cys)	rs377216828	0.00001
NM_000179.3(MSH6):c.1085C>T (p.Pro362Leu)
NM_000179.3(MSH6):c.2156C>G (p.Thr719Ser)	rs373418713
NM_000179.3(MSH6):c.2422G>A (p.Val808Ile)	rs1434578765
NM_000179.3(MSH6):c.2636C>G (p.Ala879Gly)
NM_000179.3(MSH6):c.2899A>G (p.Ile967Val)	rs876661067
NM_000179.3(MSH6):c.3259C>A (p.Pro1087Thr)	rs63750998

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