ClinVar Miner

List of variants in gene KLLN, PTEN studied for PTEN hamartoma tumor syndrome

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Total variants: 23
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HGVS dbSNP gnomAD frequency
NM_001126049.2(KLLN):c.-792C>T rs587779982 0.00044
NM_001126049.2(KLLN):c.-840G>A rs563841270 0.00036
NM_001126049.2(KLLN):c.-671A>G rs70937047 0.00026
NM_000314.4(PTEN):c.-1242G>A rs587779985 0.00018
NC_000010.10:g.(?_89621800)_(89624340_?)del
NC_000010.10:g.(?_89621800)_(89624340_?)dup
NC_000010.10:g.(?_89621800)_(89685324_?)del
NC_000010.10:g.(?_89621800)_(89693018_?)del
NC_000010.10:g.(?_89621800)_(89725321_?)del
NC_000010.10:g.(?_89621946)_(89623527_?)dup
NC_000010.10:g.(?_89622083)_(89623527_?)dup
NC_000010.10:g.(?_89622928)_(89712026_?)del
NC_000010.10:g.(?_89622928)_(89725229_?)del
NC_000010.10:g.(?_89622928)_(89725239_?)dup
NC_000010.11:g.(?_87862043)_(87863770_?)dup
NC_000010.11:g.(?_87863161)_(87894129_?)del
NC_000010.11:g.(?_87863171)_(87863770_?)del
NC_000010.11:g.(?_87863171)_(87864558_?)dup
NM_000314.8(PTEN):c.49C>G (p.Gln17Glu) rs786204910
NM_001126049.2(KLLN):c.-794_-783del rs587781340
NM_001126049.2(KLLN):c.-812G>A rs587779981
NM_001126049.2(KLLN):c.-812G>T rs587779981
Single allele

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