ClinVar Miner

List of variants studied for syndromic intellectual disability by Genetics and Prenatal Diagnosis Center, The First Affiliated Hospital of Zhengzhou University

Included ClinVar conditions (203):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_004380.3(CREBBP):c.3369+1del rs2151385509
NM_006517.5(SLC16A2):c.-6_430+5del rs2147833779
NM_019023.5(PRMT7):c.622del (p.Gln208fs) rs2151732301
NM_019023.5(PRMT7):c.927G>T (p.Gln309His) rs1597361540
NM_019597.5(HNRNPH2):c.340C>T (p.Arg114Trp) rs782191163
NM_030665.4(RAI1):c.4525del (p.Gln1509fs) rs2143003068
Single allele

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