ClinVar Miner

List of variants studied for Intellectual disability, autosomal dominant 16 by Baylor Genetics

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Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_003072.5(SMARCA4):c.3383-5G>A rs762528243 0.00006
NM_003072.5(SMARCA4):c.4826T>C (p.Leu1609Pro) rs755493468 0.00003
NM_003072.5(SMARCA4):c.661C>A (p.Pro221Thr) rs1417452362 0.00002
NM_003072.5(SMARCA4):c.*4_*5dup rs2076919180
NM_003072.5(SMARCA4):c.1348G>T (p.Ala450Ser) rs1204677224
NM_003072.5(SMARCA4):c.1351C>T (p.Arg451Cys) rs2086534839
NM_003072.5(SMARCA4):c.2704G>A (p.Val902Met) rs1600278307
NM_003072.5(SMARCA4):c.2936G>A (p.Arg979Gln)
NM_003072.5(SMARCA4):c.3608G>A (p.Arg1203His) rs770680174
NM_003072.5(SMARCA4):c.4303G>A (p.Asp1435Asn) rs796506759
NM_003072.5(SMARCA4):c.679G>A (p.Ala227Thr) rs769096295
NM_003072.5(SMARCA4):c.989C>T (p.Thr330Ile) rs1555755082

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