ClinVar Miner

List of variants reported as likely pathogenic for Mental retardation, autosomal dominant 22

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Total variants: 10
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HGVS dbSNP
NM_006352.4(ZBTB18):c.1256T>G (p.Phe419Cys) rs1572531730
NM_006352.4(ZBTB18):c.1274T>C (p.Leu425Pro) rs1553270599
NM_006352.4(ZBTB18):c.133T>C (p.Cys45Arg) rs869312689
NM_006352.4(ZBTB18):c.1438G>T (p.Asp480Tyr) rs1572532005
NM_006352.4(ZBTB18):c.1466A>C (p.His489Pro) rs1553270640
NM_205768.2(ZBTB18):c.1355G>A (p.Cys452Tyr) rs1572531830
NM_205768.3(ZBTB18):c.1378C>T (p.His460Tyr)
NM_205768.3(ZBTB18):c.1391G>C (p.Arg464Pro)
NM_205768.3(ZBTB18):c.1473C>G (p.Tyr491Ter)
NM_205768.3(ZBTB18):c.244_246dup (p.Pro82dup)

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