ClinVar Miner

List of variants reported as likely benign for multiple endocrine neoplasia type 2A by Mendelics

Included ClinVar conditions (10):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 13
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HGVS dbSNP gnomAD frequency
NM_020975.6(RET):c.2372A>T (p.Tyr791Phe) rs77724903 0.00178
NM_020975.6(RET):c.262A>G (p.Ile88Val) rs141679950 0.00056
NM_020975.6(RET):c.3112A>G (p.Thr1038Ala) rs201740483 0.00047
NM_020975.6(RET):c.1158G>A (p.Ala386=) rs373540097 0.00034
NM_020975.6(RET):c.785T>C (p.Val262Ala) rs139790943 0.00024
NM_020975.6(RET):c.1063+9G>A rs765463636 0.00014
NM_020975.6(RET):c.2611G>A (p.Val871Ile) rs145170911 0.00008
NM_020975.6(RET):c.1942G>A (p.Val648Ile) rs77711105 0.00007
NM_020975.6(RET):c.1867G>A (p.Glu623Lys) rs377767402 0.00003
NM_020975.6(RET):c.2289C>T (p.Asn763=) rs777349208 0.00001
NM_020975.6(RET):c.2592T>C (p.Tyr864=) rs1588877395
NM_020975.6(RET):c.2847A>G (p.Gly949=) rs886046989
NM_020975.6(RET):c.44TGC[4] (p.Leu19del) rs768132465

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