ClinVar Miner

List of variants studied for Intellectual developmental disorder, autosomal dominant 63, with macrocephaly by Baylor Genetics

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_007118.4(TRIO):c.3559A>G (p.Ile1187Val) rs950757813 0.00001
NM_007118.4(TRIO):c.4394A>G (p.Asn1465Ser) rs1747669042
NM_007118.4(TRIO):c.5003C>T (p.Thr1668Ile) rs2533168180
NM_007118.4(TRIO):c.5345_5355dup (p.Ser1786fs) rs2533486612

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