ClinVar Miner

List of variants reported as uncertain significance for autosomal recessive non-syndromic intellectual disability by Institute of Human Genetics, University of Leipzig Medical Center

Included ClinVar conditions (71):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_001271838.2(RSRC1):c.11G>A (p.Arg4Gln) rs749608883 0.00001
NM_001040616.3(LINS1):c.786_842del (p.Arg263_Ser281del) rs2038007278
NM_001160372.4(TRAPPC9):c.239T>C (p.Leu80Pro) rs2132705299
NM_004830.4(MED23):c.1957A>G (p.Ile653Val)
NM_006618.5(KDM5B):c.1286T>G (p.Ile429Ser) rs1295611134
NM_006828.4(ASCC3):c.5996T>C (p.Leu1999Pro)
NM_014806.5(RUSC2):c.1825C>T (p.Leu609Phe)
NM_138775.3(ALKBH8):c.1369_1379delinsTCA (p.Val457fs)
NM_153747.2(PIGC):c.138C>A (p.Tyr46Ter) rs375570541

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