ClinVar Miner

List of variants studied for Multiple endocrine neoplasia type 2A by St. Jude Molecular Pathology, St. Jude Children's Research Hospital

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Total variants: 28
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HGVS dbSNP gnomAD frequency
NM_020975.6(RET):c.200G>A (p.Arg67His) rs192489011 0.00036
NM_020975.6(RET):c.1531G>A (p.Glu511Lys) rs201553718 0.00018
NM_020975.6(RET):c.1699G>A (p.Asp567Asn) rs147219360 0.00014
NM_020975.6(RET):c.3026T>C (p.Met1009Thr) rs375213011 0.00007
NM_020975.6(RET):c.1187C>T (p.Ser396Leu) rs781646869 0.00006
NM_020975.6(RET):c.1597G>A (p.Gly533Ser) rs75873440 0.00006
NM_020975.6(RET):c.175G>A (p.Ala59Thr) rs376565365 0.00006
NM_020975.6(RET):c.1724C>T (p.Thr575Ile) rs587780808 0.00004
NM_020975.6(RET):c.1891G>A (p.Asp631Asn) rs377767406 0.00004
NM_020975.6(RET):c.2371T>A (p.Tyr791Asn) rs377767417 0.00004
NM_020975.6(RET):c.3253A>G (p.Thr1085Ala) rs756465544 0.00004
NM_020975.6(RET):c.1737C>G (p.Asn579Lys) rs144455821 0.00003
NM_020975.6(RET):c.1399G>C (p.Val467Leu) rs200334340 0.00002
NM_020975.6(RET):c.3233C>T (p.Thr1078Met) rs762952212 0.00002
NM_020975.6(RET):c.1493C>T (p.Ala498Val) rs375677628 0.00001
NM_020975.6(RET):c.1904G>A (p.Arg635His) rs776164321 0.00001
NM_020975.6(RET):c.1921G>A (p.Ala641Thr) rs377767411 0.00001
NM_020975.6(RET):c.2237T>C (p.Leu746Pro) rs755085530 0.00001
NM_020975.6(RET):c.2548G>T (p.Asp850Tyr) rs772862503 0.00001
NM_020975.6(RET):c.3192G>A (p.Met1064Ile) rs144730090 0.00001
NM_020975.6(RET):c.473G>A (p.Ser158Asn) rs780067540 0.00001
NM_020975.6(RET):c.548G>A (p.Gly183Asp) rs144801580 0.00001
NM_020975.6(RET):c.1267G>T (p.Gly423Trp)
NM_020975.6(RET):c.1295C>T (p.Ala432Val)
NM_020975.6(RET):c.1549C>G (p.Leu517Val) rs764616982
NM_020975.6(RET):c.2420C>G (p.Ala807Gly)
NM_020975.6(RET):c.2531G>A (p.Arg844Gln) rs55947360
NM_020975.6(RET):c.2996C>G (p.Ala999Gly)

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