ClinVar Miner

List of variants reported as uncertain significance for Intellectual developmental disorder, autosomal recessive 68

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Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_001136035.4(TRMT1):c.1833G>A (p.Glu611=) rs778368877 0.00004
NM_001136035.4(TRMT1):c.1019+9G>C rs375881785
NM_001136035.4(TRMT1):c.1054G>A (p.Gly352Arg)
NM_001136035.4(TRMT1):c.1078G>A (p.Gly360Ser) rs753225455
NM_001136035.4(TRMT1):c.1202_1204dup (p.Pro401_Ile402insThr)
NM_001136035.4(TRMT1):c.1385T>C (p.Leu462Pro)
NM_001136035.4(TRMT1):c.21G>A (p.Trp7Ter) rs1357887994
NM_001136035.4(TRMT1):c.583C>T (p.Arg195Trp) rs1006351159
NM_001136035.4(TRMT1):c.814A>G (p.Thr272Ala) rs759911177

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