ClinVar Miner

List of variants reported as pathogenic for adenocarcinoma by 3DMed Clinical Laboratory Inc

Included ClinVar conditions (108):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_005228.5(EGFR):c.2492G>A (p.Arg831His) rs150036236 0.00003
NM_005228.5(EGFR):c.988G>A (p.Glu330Lys) rs139429793 0.00001
NM_007294.4(BRCA1):c.3627dup (p.Glu1210fs) rs80357729 0.00001
NM_000038.6(APC):c.3927_3931del (p.Glu1309fs) rs121913224
NM_000179.3(MSH6):c.1808dup (p.Glu604fs) rs1553413200
NM_000249.4(MLH1):c.503dup (p.Asn168fs) rs63749959
NM_000249.4(MLH1):c.793C>T (p.Arg265Cys) rs63751194
NM_000251.3(MSH2):c.1216C>T (p.Arg406Ter) rs63751108
NM_000251.3(MSH2):c.1457_1460del (p.Asn486fs) rs1114167806
NM_020975.6(RET):c.2753T>C (p.Met918Thr) rs74799832

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