ClinVar Miner

List of variants reported as likely pathogenic for multiple endocrine neoplasia type 2 by Color Diagnostics, LLC DBA Color Health

Included ClinVar conditions (20):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_020975.6(RET):c.1998G>T (p.Lys666Asn) rs146646971 0.00003
NM_020975.6(RET):c.1996A>G (p.Lys666Glu) rs143795581 0.00001
NM_020975.6(RET):c.2752A>G (p.Met918Val) rs377767442 0.00001
NM_020975.6(RET):c.1858T>A (p.Cys620Ser) rs77316810
NM_020975.6(RET):c.1998G>C (p.Lys666Asn) rs146646971
NM_020975.6(RET):c.2409_2410delinsTT (p.Val804Leu)

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