ClinVar Miner

List of variants studied for intellectual developmental disorder, autosomal dominant 63, with macrocephaly by OMIM

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_007118.4(TRIO):c.3232C>G (p.Arg1078Gly) rs1554065887
NM_007118.4(TRIO):c.3232C>T (p.Arg1078Trp)
NM_007118.4(TRIO):c.3233G>A (p.Arg1078Gln) rs1745369142
NM_007118.4(TRIO):c.3239A>T (p.Asn1080Ile) rs879255628

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