ClinVar Miner

List of variants in gene INSR reported as pathogenic for Leprechaunism syndrome

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Total variants: 18
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HGVS dbSNP
NC_000019.10:g.(?_7112255)_(7249328_?)del
NG_008852.1:g.[135909G>T;8170_32961del24792]
NM_000208.4(INSR):c.1177G>A (p.Gly393Arg) rs267607184
NM_000208.4(INSR):c.1195C>T (p.Arg399Ter) rs121913151
NM_000208.4(INSR):c.1316G>C (p.Trp439Ser) rs121913158
NM_000208.4(INSR):c.1372A>G (p.Asn458Asp) rs121913160
NM_000208.4(INSR):c.1459A>G (p.Lys487Glu) rs121913136
NM_000208.4(INSR):c.164T>C (p.Val55Ala) rs121913152
NM_000208.4(INSR):c.167T>C (p.Ile56Thr) rs1555689937
NM_000208.4(INSR):c.172G>A (p.Gly58Arg) rs52836744
NM_000208.4(INSR):c.2095C>T (p.Gln699Ter) rs121913137
NM_000208.4(INSR):c.2770C>T (p.Arg924Ter) rs387906538
NM_000208.4(INSR):c.3003_3012delinsGGAAG (p.Ser1001fs) rs1555735951
NM_000208.4(INSR):c.338G>C (p.Arg113Pro) rs121913153
NM_000208.4(INSR):c.438C>G (p.Ile146Met) rs121913159
NM_000208.4(INSR):c.442A>T (p.Lys148Ter) rs121913155
NM_000208.4(INSR):c.707A>G (p.His236Arg) rs121913145
NM_000208.4(INSR):c.779T>C (p.Leu260Pro) rs121913141

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