ClinVar Miner

List of variants in gene STRC reported as pathogenic by Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

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Gene type:
ClinVar version:
Total variants: 21
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HGVS dbSNP gnomAD frequency
NM_153700.2(STRC):c.4027C>T (p.Gln1343Ter) rs144948296 0.00018
NM_153700.2(STRC):c.4402C>T (p.Arg1468Ter) rs377480477 0.00011
NM_153700.2(STRC):c.3670C>T (p.Arg1224Ter) rs727503444 0.00007
NM_153700.2(STRC):c.379C>T (p.Arg127Ter) rs771264491 0.00007
NM_153700.2(STRC):c.4195G>T (p.Glu1399Ter) rs371513959 0.00006
NM_153700.2(STRC):c.4219-1G>A rs748854592 0.00006
NM_153700.2(STRC):c.3484del (p.Trp1162fs) rs727505074 0.00002
NM_153700.2(STRC):c.3217C>T (p.Arg1073Ter) rs876657725 0.00001
NM_153700.2(STRC):c.(?_1)_(5328_?)del
NM_153700.2(STRC):c.(?_3795)_(4993_?)del
NM_153700.2(STRC):c.(?_4376)-190_(4845_?)-68del
NM_153700.2(STRC):c.(?_4443)_(4845_?)-68del
NM_153700.2(STRC):c.(?_4702)_(4993_?)del
NM_153700.2(STRC):c.1086C>A (p.Tyr362Ter) rs876657724
NM_153700.2(STRC):c.2356del (p.Leu786fs) rs1432916745
NM_153700.2(STRC):c.259C>T (p.Gln87Ter) rs1344019160
NM_153700.2(STRC):c.3493C>T (p.Gln1165Ter) rs876657726
NM_153700.2(STRC):c.4375+1G>A rs766595464
NM_153700.2(STRC):c.461del (p.Pro154fs) rs1411667337
NM_153700.2(STRC):c.4701+1G>A rs199839039
NM_153700.2(STRC):c.4796_4800del (p.Cys1599fs) rs727503442

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