ClinVar Miner

List of variants in gene combination LOC130062899, STK11 reported by Quest Diagnostics Nichols Institute San Juan Capistrano

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Total variants: 20
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HGVS dbSNP gnomAD frequency
NM_000455.5(STK11):c.1038C>T (p.Gly346=) rs767565606 0.00011
NM_000455.5(STK11):c.1069G>A (p.Glu357Lys) rs759473833 0.00006
NM_000455.5(STK11):c.992G>A (p.Arg331Gln) rs371264852 0.00006
NM_000455.5(STK11):c.1027G>A (p.Asp343Asn) rs368547224 0.00005
NM_000455.5(STK11):c.1041G>A (p.Ala347=) rs537906142 0.00004
NM_000455.5(STK11):c.1035C>T (p.His345=) rs751619208 0.00003
NM_000455.5(STK11):c.1039G>A (p.Ala347Thr) rs369744528 0.00003
NM_000455.5(STK11):c.1050C>T (p.Asp350=) rs779583262 0.00002
NM_000455.5(STK11):c.1012G>A (p.Val338Met) rs587782302 0.00001
NM_000455.5(STK11):c.1071G>T (p.Glu357Asp) rs556651007 0.00001
NM_000455.5(STK11):c.1101G>A (p.Thr367=) rs750954647 0.00001
NM_000455.5(STK11):c.1108+3G>A rs755746417 0.00001
NM_000455.5(STK11):c.991C>T (p.Arg331Trp) rs876658594 0.00001
NM_000455.5(STK11):c.1032G>A (p.Leu344=) rs371928158
NM_000455.5(STK11):c.1037_1042del (p.Gly346_Ala347del) rs1060499969
NM_000455.5(STK11):c.1045GAGGAC[1] (p.349ED[1]) rs762810203
NM_000455.5(STK11):c.1056C>T (p.Asp352=) rs768217700
NM_000455.5(STK11):c.1062C>T (p.Phe354=) rs59912467
NM_000455.5(STK11):c.1063G>A (p.Asp355Asn) rs769403473
NM_000455.5(STK11):c.1108G>C (p.Gly370Arg) rs747655835

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