ClinVar Miner

List of variants reported as pathogenic for Intellectual developmental disorder, autosomal recessive 68 by OMIM

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_001136035.4(TRMT1):c.1332_1333del (p.Tyr445fs)	rs1203487591
NM_001136035.4(TRMT1):c.1506+1G>T	rs1568361011
NM_001136035.4(TRMT1):c.657_688del (p.Gln219fs)	rs746572548

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