ClinVar Miner

List of variants studied for intellectual disability, autosomal dominant 40

Included ClinVar conditions (1):
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Total variants: 55
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HGVS dbSNP gnomAD frequency
NM_032436.4(CHAMP1):c.951T>C (p.Pro317=) rs144765511 0.00146
NM_032436.4(CHAMP1):c.926C>T (p.Pro309Leu) rs142271038 0.00030
NM_007118.4(TRIO):c.8824C>G (p.Gln2942Glu) rs377248579 0.00009
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.1002G>A (p.Trp334Ter) rs879255261
NM_032436.4(CHAMP1):c.1007C>A (p.Pro336Gln)
NM_032436.4(CHAMP1):c.1034C>T (p.Pro345Leu)
NM_032436.4(CHAMP1):c.1043G>A (p.Trp348Ter) rs2139420056
NM_032436.4(CHAMP1):c.1150C>T (p.Pro384Ser) rs1430511251
NM_032436.4(CHAMP1):c.1192C>T (p.Arg398Ter) rs797044962
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.1440G>A (p.Trp480Ter)
NM_032436.4(CHAMP1):c.1489C>T (p.Arg497Ter) rs782397980
NM_032436.4(CHAMP1):c.1663C>T (p.Arg555Trp)
NM_032436.4(CHAMP1):c.1692dup (p.Lys565fs) rs2139421634
NM_032436.4(CHAMP1):c.1741del (p.Glu581fs) rs2139421763
NM_032436.4(CHAMP1):c.1767T>G (p.Asp589Glu)
NM_032436.4(CHAMP1):c.1768C>T (p.Gln590Ter) rs200070245
NM_032436.4(CHAMP1):c.1858A>T (p.Lys620Ter) rs2087240702
NM_032436.4(CHAMP1):c.1866_1867del (p.Asp622fs) rs797044963
NM_032436.4(CHAMP1):c.1876_1877del (p.Ser626fs) rs2139422092
NM_032436.4(CHAMP1):c.1903_1906del (p.Glu635fs)
NM_032436.4(CHAMP1):c.1995dup (p.Ser666Ter) rs2139422391
NM_032436.4(CHAMP1):c.2000_2001del (p.Lys667fs)
NM_032436.4(CHAMP1):c.2004_2005del (p.Asn669fs)
NM_032436.4(CHAMP1):c.2027dup (p.Glu677fs)
NM_032436.4(CHAMP1):c.2044G>A (p.Val682Met)
NM_032436.4(CHAMP1):c.2068_2069del (p.Glu690fs)
NM_032436.4(CHAMP1):c.2085A>G (p.Glu695=)
NM_032436.4(CHAMP1):c.2094del (p.Ile698fs)
NM_032436.4(CHAMP1):c.2218T>A (p.Cys740Ser)
NM_032436.4(CHAMP1):c.343C>T (p.Gln115Ter)
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.530_532delinsTTT (p.Ser177_Lys178delinsPheTer) rs2139418772
NM_032436.4(CHAMP1):c.542_543del (p.Ser181fs) rs863225077
NM_032436.4(CHAMP1):c.575_576del (p.Pro192fs)
NM_032436.4(CHAMP1):c.613C>T (p.Pro205Ser) rs782278722
NM_032436.4(CHAMP1):c.628C>T (p.Pro210Ser)
NM_032436.4(CHAMP1):c.635del (p.Pro212fs) rs797044961
NM_032436.4(CHAMP1):c.647_649dup (p.Ser217Ter) rs2139419099
NM_032436.4(CHAMP1):c.661dup (p.Thr221fs) rs1594129609
NM_032436.4(CHAMP1):c.712G>A (p.Gly238Arg)
NM_032436.4(CHAMP1):c.785C>T (p.Ala262Val)
NM_032436.4(CHAMP1):c.824_828del (p.Thr274_Ser275insTer) rs2139419505
NM_032436.4(CHAMP1):c.923C>T (p.Ser308Leu) rs1555379590
NM_032436.4(CHAMP1):c.959dup (p.Pro320_Arg321insTer) rs2139419839
NM_032436.4(CHAMP1):c.998C>A (p.Pro333His)
NM_182931.3(KMT2E):c.658G>A (p.Val220Ile)

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