ClinVar Miner

List of variants studied for autosomal recessive non-syndromic intellectual disability by Institute of Human Genetics, University of Goettingen

Included ClinVar conditions (71):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_003754.3(EIF3F):c.671C>T (p.Pro224Leu) rs1185010700
NM_006618.5(KDM5B):c.998_1004del (p.Ser333fs)
NM_032808.7(LINGO1):c.158G>A (p.Arg53His)
NM_181503.3(EXOSC8):c.734dup (p.Ala246fs) rs773616244
NM_181503.3(EXOSC8):c.89_91del (p.Gly30del) rs764339075

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