ClinVar Miner

List of variants studied for Obesity, hyperphagia, and developmental delay

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Total variants: 25
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HGVS dbSNP gnomAD frequency
NM_006180.6(NTRK2):c.212+40C>T rs1187326 0.72197
NM_006180.6(NTRK2):c.1937+13G>A rs2289656 0.15606
NM_006180.6(NTRK2):c.1319C>T (p.Ala440Val) rs1332713570 0.00001
NM_006180.6(NTRK2):c.2012A>G (p.His671Arg) rs201044261 0.00001
NM_006180.6(NTRK2):c.446C>T (p.Pro149Leu) rs201757733 0.00001
NM_006180.6(NTRK2):c.1330G>T (p.Gly444Ter) rs1085308029
NM_006180.6(NTRK2):c.1634-3C>G
NM_006180.6(NTRK2):c.1651C>T (p.Arg551Ter)
NM_006180.6(NTRK2):c.1652G>A (p.Arg551Gln)
NM_006180.6(NTRK2):c.1870G>A (p.Val624Met)
NM_006180.6(NTRK2):c.1922T>G (p.Leu641Arg)
NM_006180.6(NTRK2):c.202A>T (p.Ile68Phe)
NM_006180.6(NTRK2):c.2072G>A (p.Arg691His)
NM_006180.6(NTRK2):c.2087G>A (p.Arg696Lys)
NM_006180.6(NTRK2):c.211A>G (p.Ile71Val) rs1169880026
NM_006180.6(NTRK2):c.213-2A>G
NM_006180.6(NTRK2):c.2141C>T (p.Ser714Phe)
NM_006180.6(NTRK2):c.2143C>T (p.Arg715Trp)
NM_006180.6(NTRK2):c.2144G>A (p.Arg715Gln)
NM_006180.6(NTRK2):c.2159C>T (p.Thr720Ile) rs1554774973
NM_006180.6(NTRK2):c.2164T>G (p.Tyr722Asp)
NM_006180.6(NTRK2):c.2165A>G (p.Tyr722Cys) rs121434633
NM_006180.6(NTRK2):c.2168A>C (p.Tyr723Ser)
NM_006180.6(NTRK2):c.2404A>T (p.Met802Leu)
NM_006180.6(NTRK2):c.986A>G (p.Tyr329Cys)

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