ClinVar Miner

List of variants reported as benign for Microcephaly-thin corpus callosum-intellectual disability syndrome by Genome-Nilou Lab

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Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_003184.4(TAF2):c.2319A>G (p.Thr773=) rs1509348 0.60847
NM_003184.4(TAF2):c.792+14T>C rs7813438 0.60785
NM_003184.4(TAF2):c.2112+14C>T rs13268676 0.60770
NM_003184.4(TAF2):c.1568+27G>A rs6469846 0.58652
NM_001366285.2(TBXT):c.530G>A (p.Gly177Asp) rs2305089 0.42338
NM_003184.4(TAF2):c.2250G>A (p.Gln750=) rs7002501 0.30473
NM_003184.4(TAF2):c.418+40C>T rs4871634 0.27095
NM_003184.4(TAF2):c.23C>T (p.Pro8Leu) rs17818842 0.13424
NM_003184.4(TAF2):c.1323G>A (p.Leu441=) rs11996390
NM_003184.4(TAF2):c.1340G>C (p.Ser447Thr) rs9297605
NM_003184.4(TAF2):c.2254-17dup rs35033415

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