ClinVar Miner

List of variants in gene CHAMP1 reported as uncertain significance for intellectual disability, autosomal dominant 40

Included ClinVar conditions (1):
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Total variants: 24
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HGVS dbSNP gnomAD frequency
NM_032436.4(CHAMP1):c.1339G>T (p.Asp447Tyr) rs1555379738 0.00001
NM_032436.4(CHAMP1):c.170A>G (p.Lys57Arg) rs782162864 0.00001
NM_032436.4(CHAMP1):c.1007C>A (p.Pro336Gln)
NM_032436.4(CHAMP1):c.1034C>T (p.Pro345Leu)
NM_032436.4(CHAMP1):c.1150C>T (p.Pro384Ser) rs1430511251
NM_032436.4(CHAMP1):c.1295G>A (p.Ser432Asn)
NM_032436.4(CHAMP1):c.1345T>C (p.Trp449Arg)
NM_032436.4(CHAMP1):c.1351C>T (p.Leu451Phe) rs2087229717
NM_032436.4(CHAMP1):c.1360G>A (p.Asp454Asn) rs2087230003
NM_032436.4(CHAMP1):c.1429C>T (p.Pro477Ser)
NM_032436.4(CHAMP1):c.1663C>T (p.Arg555Trp)
NM_032436.4(CHAMP1):c.1767T>G (p.Asp589Glu)
NM_032436.4(CHAMP1):c.2044G>A (p.Val682Met)
NM_032436.4(CHAMP1):c.2085A>G (p.Glu695=)
NM_032436.4(CHAMP1):c.2218T>A (p.Cys740Ser)
NM_032436.4(CHAMP1):c.364G>C (p.Ala122Pro)
NM_032436.4(CHAMP1):c.475C>T (p.Pro159Ser) rs2087209947
NM_032436.4(CHAMP1):c.491C>T (p.Ser164Phe) rs2139418657
NM_032436.4(CHAMP1):c.613C>T (p.Pro205Ser) rs782278722
NM_032436.4(CHAMP1):c.628C>T (p.Pro210Ser)
NM_032436.4(CHAMP1):c.712G>A (p.Gly238Arg)
NM_032436.4(CHAMP1):c.785C>T (p.Ala262Val)
NM_032436.4(CHAMP1):c.923C>T (p.Ser308Leu) rs1555379590
NM_032436.4(CHAMP1):c.998C>A (p.Pro333His)

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