ClinVar Miner

List of variants reported as likely pathogenic for Multiple endocrine neoplasia, type 2 by Invitae

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Total variants: 13
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HGVS dbSNP gnomAD frequency
NC_000010.10:g.(?_43595901)_(43598083_?)del
NC_000010.11:g.(?_43100449)_(43102639_?)del
NM_020975.6(RET):c.1522+2T>C rs2132777891
NM_020975.6(RET):c.1622G>A (p.Cys541Tyr)
NM_020975.6(RET):c.1879+1G>A rs1588873476
NM_020975.6(RET):c.1947G>A (p.Ser649=) rs377767412
NM_020975.6(RET):c.1998delinsTTCT (p.Lys666delinsAsnSer) rs377767440
NM_020975.6(RET):c.2136+2T>G
NM_020975.6(RET):c.2752A>G (p.Met918Val) rs377767442
NM_020975.6(RET):c.3040-2A>G rs2133032257
NM_020975.6(RET):c.74-2A>T rs2132656224
NM_020975.6(RET):c.95C>T (p.Ser32Leu) rs76764689
NM_020975.6(RET):c.989G>A (p.Arg330Gln) rs80236571

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