ClinVar Miner

List of variants reported as pathogenic for Koolen-de Vries syndrome

Included ClinVar conditions (1):
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Total variants: 55
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HGVS dbSNP gnomAD frequency
NM_015443.4(KANSL1):c.868C>T (p.Arg290Ter) rs149830411 0.00006
NM_015443.4(KANSL1):c.808_809del (p.Leu270fs) rs551541795 0.00001
17q21.31 Microdeletion
GRCh37/hg19 17q21.31(chr17:43703801-44212416)
GRCh37/hg19 17q21.31(chr17:43706886-44210822)x1
NC_000017.10:g.(?_43861911)_(44159928_?)del
NC_000017.10:g.(?_44108842)_(44159928_?)del
NC_000017.10:g.(?_44159787)_(44159928_?)dup
NC_000017.11:g.(?_46031456)_(46082562_?)del
NC_000017.11:g.46096853_46403941del
NM_000051.4(ATM):c.8977C>T (p.Arg2993Ter) rs770641163
NM_015443.4(KANSL1):c.1042C>T (p.Arg348Ter) rs1427624649
NM_015443.4(KANSL1):c.1328dup (p.Ala444fs) rs2146947627
NM_015443.4(KANSL1):c.1396C>T (p.Gln466Ter)
NM_015443.4(KANSL1):c.1420C>T (p.Arg474Cys) rs1018963624
NM_015443.4(KANSL1):c.1485_1488del (p.Leu496fs)
NM_015443.4(KANSL1):c.1652+1G>A rs281865470
NM_015443.4(KANSL1):c.1653-4_1653del
NM_015443.4(KANSL1):c.1657_1658insTTGTAT (p.Gln553delinsLeuValTer) rs2146659025
NM_015443.4(KANSL1):c.1726C>T (p.Arg576Ter) rs2146658002
NM_015443.4(KANSL1):c.1816C>T (p.Arg606Ter) rs281865469
NM_015443.4(KANSL1):c.1849-26_1871del rs2146486142
NM_015443.4(KANSL1):c.1849-4661_1895del
NM_015443.4(KANSL1):c.2020+1G>A
NM_015443.4(KANSL1):c.2063_2064del (p.Gln688fs)
NM_015443.4(KANSL1):c.2104A>T (p.Lys702Ter)
NM_015443.4(KANSL1):c.2105del (p.Lys702fs) rs2146370110
NM_015443.4(KANSL1):c.2130del (p.Met711fs)
NM_015443.4(KANSL1):c.2132dup (p.Met711fs) rs1555734136
NM_015443.4(KANSL1):c.2284C>T (p.Arg762Ter) rs2146363405
NM_015443.4(KANSL1):c.2342del (p.Pro781fs)
NM_015443.4(KANSL1):c.2470C>T (p.Arg824Ter) rs2077221203
NM_015443.4(KANSL1):c.2591del (p.Asn864fs) rs2077088526
NM_015443.4(KANSL1):c.2664del (p.Ser889fs)
NM_015443.4(KANSL1):c.2692_2693del (p.Leu898fs) rs2077066093
NM_015443.4(KANSL1):c.2772_2776del (p.Cys924_Glu926delinsTer)
NM_015443.4(KANSL1):c.2785_2786del (p.Arg929fs) rs281865471
NM_015443.4(KANSL1):c.2821del (p.Gln941fs) rs2146314756
NM_015443.4(KANSL1):c.2831dup (p.Ser945fs) rs2146314563
NM_015443.4(KANSL1):c.2837+2T>C rs975947508
NM_015443.4(KANSL1):c.2938_2939del (p.Leu980fs) rs1568366050
NM_015443.4(KANSL1):c.3031C>T (p.Arg1011Ter) rs779686052
NM_015443.4(KANSL1):c.3049dup (p.Asp1017fs) rs2077025601
NM_015443.4(KANSL1):c.449del (p.Pro150fs) rs1567764119
NM_015443.4(KANSL1):c.490dup (p.Ser164fs)
NM_015443.4(KANSL1):c.501_511dup (p.Asp171fs) rs2147746137
NM_015443.4(KANSL1):c.540del (p.Lys180fs) rs1597874008
NM_015443.4(KANSL1):c.572del (p.Gly191fs) rs1555575816
NM_015443.4(KANSL1):c.611dup (p.Met205fs)
NM_015443.4(KANSL1):c.779del (p.Gly260fs) rs748018297
NM_015443.4(KANSL1):c.878del (p.Asp293fs) rs1555575405
NM_015443.4(KANSL1):c.908_909del (p.Lys303fs)
NM_015443.4(KANSL1):c.916C>T (p.Gln306Ter) rs281865468
NM_015443.4(KANSL1):c.985_986del (p.Leu329fs) rs281865473
NM_015443.4:c.1431+1_1432-1del

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