ClinVar Miner

List of variants studied for intellectual developmental disorder, autosomal recessive 74 by Baylor Genetics

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_005883.3(APC2):c.4616G>C (p.Arg1539Pro) rs367655515
NM_005883.3(APC2):c.5772G>C (p.Gln1924His) rs2084082995
NM_005883.3(APC2):c.583C>T (p.Arg195Cys) rs1158412843
NM_005883.3(APC2):c.6111C>T (p.Phe2037=) rs1405418055
NM_005883.3(APC2):c.757C>T (p.Pro253Ser) rs555858661
NM_005883.3(APC2):c.796C>A (p.Pro266Thr) rs146579468

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