ClinVar Miner

List of variants reported for Congenital central hypoventilation; Hirschsprung disease, susceptibility to, 1; MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIB; Pheochromocytoma; Familial medullary thyroid carcinoma; MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIA by Fulgent Genetics, Fulgent Genetics

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Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_020975.6(RET):c.2611G>A (p.Val871Ile) rs145170911 0.00008
NM_020975.6(RET):c.2527G>A (p.Glu843Lys) rs755837568 0.00006
NM_020975.6(RET):c.2371T>A (p.Tyr791Asn) rs377767417 0.00004
NM_020975.6(RET):c.2225C>T (p.Thr742Met) rs773256580 0.00003
NM_020975.6(RET):c.1151C>G (p.Pro384Arg) rs771679592 0.00001
NM_020975.6(RET):c.1448A>G (p.Tyr483Cys) rs752322996 0.00001
NM_020975.6(RET):c.2945G>A (p.Arg982His) rs368550200 0.00001
NM_020975.6(RET):c.433G>A (p.Val145Ile) rs1311922451 0.00001
NM_020975.6(RET):c.1852T>G (p.Cys618Gly) rs76262710
NM_020975.6(RET):c.1947G>A (p.Ser649=) rs377767412
NM_020975.6(RET):c.2454G>A (p.Glu818=) rs794727131

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