ClinVar Miner

List of variants in gene combination EPCAM, MSH2 reported as pathogenic

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 25
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HGVS dbSNP gnomAD frequency
GRCh37/hg19 2p21(chr2:47598133-47684221)x1
GRCh37/hg19 2p21(chr2:47612218-47693997)x1
NC_000002.11:g.(47607109_47612304)_(47698202_47702163)del
NC_000002.11:g.(?_47596286)_(47630542_47635539)del
NC_000002.11:g.(?_47596286)_(47657081_47672686)del
NC_000002.11:g.(?_47596286)_(47710368_?)del
NC_000002.11:g.(?_47596635)_(47639709_?)del
NC_000002.11:g.(?_47596639)_(47705664_?)del
NC_000002.11:g.(?_47596645)_(47637521_?)del
NC_000002.11:g.(?_47596645)_(47639709_?)del
NC_000002.11:g.(?_47596645)_(47672806_?)del
NC_000002.11:g.(?_47596645)_(47690303_?)del
NC_000002.11:g.(?_47596645)_(47693957_?)del
NC_000002.11:g.(?_47612295)_(47643578_?)del
NC_000002.12:g.(?_47369496)_(47480881_?)del
NC_000002.12:g.(?_47369506)_(47403412_?)del
NC_000002.12:g.(?_47369506)_(47416439_?)del
NC_000002.12:g.(?_47369506)_(47429951_?)del
NC_000002.12:g.(?_47373453)_(47445667_?)del
NC_000002.12:g.(?_47377004)_(47403412_?)del
NC_000002.12:g.(?_47377004)_(47410382_?)del
NC_000002.12:g.(?_47378943)_(47416439_?)del
NC_000002.12:g.(?_47385156)_(47403412_?)del
NM_000251.2(MSH2):c.(?-1)_(1276+1_1277-1)del
NM_002354.2(EPCAM):c.(903+1_904-1)_(*1_?)del

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