ClinVar Miner

List of variants reported as likely pathogenic for Mental retardation, autosomal dominant 16

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Total variants: 6
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HGVS dbSNP
NM_001128849.2(SMARCA4):c.2647G>A (p.Gly883Ser) rs1568486679
NM_001128849.2(SMARCA4):c.2704G>A (p.Val902Met) rs1600278307
NM_001128849.2(SMARCA4):c.3127C>T (p.Arg1043Trp) rs770014321
NM_001128849.2(SMARCA4):c.3557C>T (p.Ala1186Val) rs1600388982
NM_001128849.2(SMARCA4):c.3734C>G (p.Ala1245Gly) rs797045984
NM_003072.4(SMARCA4):c.3922C>T (p.Arg1308Trp) rs587779750

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