ClinVar Miner

List of variants reported as uncertain significance for Koolen de Vries syndrome by Invitae

Included ClinVar conditions (1):
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ClinVar version:
Total variants: 85
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HGVS dbSNP
NC_000017.10:g.(?_44108822)_(44128090_?)dup
NM_001193466.2(KANSL1):c.103G>A (p.Glu35Lys) rs369793673
NM_001193466.2(KANSL1):c.1075A>C (p.Ser359Arg) rs1309097254
NM_001193466.2(KANSL1):c.1106A>G (p.Asn369Ser) rs139564524
NM_001193466.2(KANSL1):c.1124C>T (p.Ser375Leu) rs142696045
NM_001193466.2(KANSL1):c.1157G>T (p.Ser386Ile) rs143589497
NM_001193466.2(KANSL1):c.116A>C (p.Asn39Thr) rs1060502199
NM_001193466.2(KANSL1):c.116A>G (p.Asn39Ser) rs1060502199
NM_001193466.2(KANSL1):c.1187A>T (p.Gln396Leu) rs149302199
NM_001193466.2(KANSL1):c.122A>G (p.Asn41Ser) rs142587760
NM_001193466.2(KANSL1):c.1256C>G (p.Thr419Ser)
NM_001193466.2(KANSL1):c.1265A>T (p.Asp422Val) rs191058987
NM_001193466.2(KANSL1):c.1277G>C (p.Arg426Pro) rs764291274
NM_001193466.2(KANSL1):c.1285C>A (p.Pro429Thr) rs142062936
NM_001193466.2(KANSL1):c.1289+3_1289+5del
NM_001193466.2(KANSL1):c.12G>A (p.Met4Ile) rs146472353
NM_001193466.2(KANSL1):c.1402G>C (p.Asp468His) rs745576981
NM_001193466.2(KANSL1):c.1564C>T (p.His522Tyr)
NM_001193466.2(KANSL1):c.1568G>C (p.Gly523Ala) rs1568411157
NM_001193466.2(KANSL1):c.1616G>A (p.Cys539Tyr) rs776741181
NM_001193466.2(KANSL1):c.1625T>A (p.Leu542His) rs796052593
NM_001193466.2(KANSL1):c.164C>T (p.Ala55Val) rs1213319847
NM_001193466.2(KANSL1):c.1714C>T (p.His572Tyr) rs759587635
NM_001193466.2(KANSL1):c.1751C>T (p.Ser584Phe)
NM_001193466.2(KANSL1):c.1774C>T (p.Arg592Trp) rs774841964
NM_001193466.2(KANSL1):c.1781G>C (p.Arg594Pro) rs1057520691
NM_001193466.2(KANSL1):c.181C>A (p.Leu61Ile) rs1567764831
NM_001193466.2(KANSL1):c.1831G>A (p.Val611Ile) rs202150313
NM_001193466.2(KANSL1):c.1848+4G>A
NM_001193466.2(KANSL1):c.1859A>C (p.Asn620Thr) rs200979425
NM_001193466.2(KANSL1):c.1870C>T (p.Arg624Cys)
NM_001193466.2(KANSL1):c.1949A>G (p.Tyr650Cys)
NM_001193466.2(KANSL1):c.19G>A (p.Ala7Thr) rs768152581
NM_001193466.2(KANSL1):c.2033G>A (p.Ser678Asn) rs1555734253
NM_001193466.2(KANSL1):c.2106G>C (p.Lys702Asn) rs371108710
NM_001193466.2(KANSL1):c.2109A>T (p.Leu703Phe)
NM_001193466.2(KANSL1):c.2135C>T (p.Pro712Leu) rs549189483
NM_001193466.2(KANSL1):c.2194A>G (p.Thr732Ala) rs1036089094
NM_001193466.2(KANSL1):c.2392+3A>T rs1568374384
NM_001193466.2(KANSL1):c.2406C>A (p.His802Gln)
NM_001193466.2(KANSL1):c.2414T>C (p.Met805Thr) rs201526313
NM_001193466.2(KANSL1):c.2441C>G (p.Thr814Ser) rs757031050
NM_001193466.2(KANSL1):c.2464T>G (p.Leu822Val) rs754877424
NM_001193466.2(KANSL1):c.2503C>T (p.Pro835Ser) rs1555733519
NM_001193466.2(KANSL1):c.2506G>A (p.Ala836Thr) rs935626079
NM_001193466.2(KANSL1):c.277A>G (p.Lys93Glu)
NM_001193466.2(KANSL1):c.2893T>C (p.Ser965Pro) rs1291308469
NM_001193466.2(KANSL1):c.2897C>T (p.Thr966Ile) rs763252158
NM_001193466.2(KANSL1):c.296A>G (p.Gln99Arg) rs754727332
NM_001193466.2(KANSL1):c.3038T>C (p.Leu1013Ser) rs138490347
NM_001193466.2(KANSL1):c.3053C>A (p.Thr1018Asn)
NM_001193466.2(KANSL1):c.3053C>T (p.Thr1018Ile) rs145863194
NM_001193466.2(KANSL1):c.3056G>A (p.Arg1019His) rs781056926
NM_001193466.2(KANSL1):c.3091-3C>T rs374360315
NM_001193466.2(KANSL1):c.3116C>T (p.Thr1039Ile) rs1444239074
NM_001193466.2(KANSL1):c.3128C>T (p.Ala1043Val)
NM_001193466.2(KANSL1):c.3143C>T (p.Ala1048Val)
NM_001193466.2(KANSL1):c.3154G>A (p.Asp1052Asn)
NM_001193466.2(KANSL1):c.316A>G (p.Thr106Ala) rs371450753
NM_001193466.2(KANSL1):c.3245C>T (p.Ser1082Leu)
NM_001193466.2(KANSL1):c.3266A>G (p.Lys1089Arg) rs1568364868
NM_001193466.2(KANSL1):c.3272G>A (p.Arg1091Gln) rs752029022
NM_001193466.2(KANSL1):c.388G>A (p.Val130Ile)
NM_001193466.2(KANSL1):c.392T>G (p.Leu131Trp) rs1486873707
NM_001193466.2(KANSL1):c.500A>G (p.His167Arg) rs779594202
NM_001193466.2(KANSL1):c.53T>C (p.Ile18Thr) rs1060502198
NM_001193466.2(KANSL1):c.541C>T (p.Arg181Trp) rs375225315
NM_001193466.2(KANSL1):c.542G>A (p.Arg181Gln) rs771481251
NM_001193466.2(KANSL1):c.551C>A (p.Thr184Asn) rs1366986871
NM_001193466.2(KANSL1):c.571G>T (p.Gly191Cys) rs149566146
NM_001193466.2(KANSL1):c.584G>A (p.Gly195Glu)
NM_001193466.2(KANSL1):c.619A>G (p.Asn207Asp) rs372601814
NM_001193466.2(KANSL1):c.625A>G (p.Thr209Ala)
NM_001193466.2(KANSL1):c.641G>A (p.Ser214Asn) rs746645554
NM_001193466.2(KANSL1):c.680G>T (p.Ser227Ile)
NM_001193466.2(KANSL1):c.701T>C (p.Val234Ala) rs199948200
NM_001193466.2(KANSL1):c.719C>T (p.Pro240Leu) rs767565501
NM_001193466.2(KANSL1):c.779G>T (p.Gly260Val)
NM_001193466.2(KANSL1):c.802T>C (p.Ser268Pro) rs767021119
NM_001193466.2(KANSL1):c.805C>T (p.Pro269Ser) rs200903841
NM_001193466.2(KANSL1):c.812C>T (p.Ser271Phe)
NM_001193466.2(KANSL1):c.823T>C (p.Phe275Leu) rs1567762510
NM_001193466.2(KANSL1):c.836A>T (p.Asp279Val) rs1567762446
NM_001193466.2(KANSL1):c.907A>G (p.Lys303Glu) rs1263813959
NM_001193466.2(KANSL1):c.949A>G (p.Ile317Val) rs139843442

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