ClinVar Miner

List of variants studied for syndromic intellectual disability by Randwick Genomics Laboratory, Prince of Wales Hospital Sydney, Australia, New South Wales Health Pathology

Included ClinVar conditions (203):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NC_000023.11:g.155264167_155265545del
NM_001272071.2(AP1S2):c.-1+1G>A rs1934288587
NM_004595.5(SMS):c.152A>G (p.Tyr51Cys) rs2147508108
NM_006565.4(CTCF):c.1699C>T (p.Arg567Trp) rs879255516
NM_013275.6(ANKRD11):c.4140_4141del (p.Tyr1380_Lys1381delinsTer)

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