ClinVar Miner

List of variants in gene INSR reported as pathogenic for Pineal hyperplasia AND diabetes mellitus syndrome

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 8
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NM_000208.4(INSR):c.1124-2A>G rs587776819
NM_000208.4(INSR):c.126C>A (p.Asn42Lys) rs121913143
NM_000208.4(INSR):c.2480_2487del (p.Gln827fs) rs587776820
NM_000208.4(INSR):c.3079C>T (p.Arg1027Ter) rs121913144
NM_000208.4(INSR):c.394G>A (p.Gly132Ser) rs886037750

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