ClinVar Miner

List of variants studied for syndromic X-linked intellectual disability 94 by Genome-Nilou Lab

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_000828.4(GRIA3):c.-2G= rs58044961 1.00000
NM_007325.5(GRIA3):c.751-16T>C rs550640 0.58620
NM_007325.5(GRIA3):c.1200T>C (p.Asn400=) rs502434 0.57798
NM_007325.5(GRIA3):c.384dup (p.Phe129fs) rs2147282654

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