ClinVar Miner

List of variants reported as uncertain significance for Insulin-resistant diabetes mellitus AND acanthosis nigricans; Hyperinsulinism due to INSR deficiency; Leprechaunism syndrome; Rabson-Mendenhall syndrome by Fulgent Genetics, Fulgent Genetics

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Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_000208.4(INSR):c.1550A>G (p.Glu517Gly) rs147671523 0.00058
NM_000208.4(INSR):c.2573C>T (p.Thr858Met) rs201466857 0.00048
NM_000208.4(INSR):c.2388G>C (p.Arg796Ser) rs78433961 0.00036
NM_000208.4(INSR):c.2665C>T (p.Arg889Trp) rs76077021 0.00021
NM_000208.4(INSR):c.3193C>G (p.Leu1065Val) rs56395521 0.00021
NM_000208.4(INSR):c.3775G>A (p.Asp1259Asn) rs369102740 0.00007
NM_000208.4(INSR):c.1628C>T (p.Thr543Met) rs767160876 0.00005
NM_000208.4(INSR):c.3143G>A (p.Gly1048Asp) rs200921389 0.00005
NM_000208.4(INSR):c.2121C>T (p.Gly707=) rs753257847 0.00002
NM_000208.4(INSR):c.2498G>A (p.Arg833Gln) rs777565396 0.00001
NM_000208.4(INSR):c.3410T>C (p.Ile1137Thr) rs775854644

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