ClinVar Miner

List of variants reported as uncertain significance for Kleefstra syndrome 1 by Invitae

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 128
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HGVS dbSNP
NC_000009.11:g.(?_140657107)_(140685442_?)dup
NC_000009.11:g.(?_140695312)_(140729425_?)dup
NC_000009.11:g.(?_140728781)_(140729425_?)dup
NM_024757.5(EHMT1):c.100G>A (p.Ala34Thr)
NM_024757.5(EHMT1):c.1081G>A (p.Gly361Ser) rs143891279
NM_024757.5(EHMT1):c.1089_1090inv (p.Ala364Thr)
NM_024757.5(EHMT1):c.1100C>T (p.Ala367Val)
NM_024757.5(EHMT1):c.1140G>C (p.Glu380Asp) rs368995503
NM_024757.5(EHMT1):c.1160G>A (p.Arg387His) rs776502547
NM_024757.5(EHMT1):c.1177G>T (p.Gly393Trp) rs772187480
NM_024757.5(EHMT1):c.1202C>A (p.Ser401Tyr) rs1554863573
NM_024757.5(EHMT1):c.1222G>C (p.Glu408Gln) rs1564693239
NM_024757.5(EHMT1):c.1265T>G (p.Ile422Ser) rs1564697100
NM_024757.5(EHMT1):c.128C>T (p.Ala43Val)
NM_024757.5(EHMT1):c.1337G>A (p.Arg446Gln) rs745964626
NM_024757.5(EHMT1):c.1382A>G (p.Tyr461Cys) rs576338391
NM_024757.5(EHMT1):c.1402G>A (p.Ala468Thr) rs202097707
NM_024757.5(EHMT1):c.1412C>T (p.Thr471Met)
NM_024757.5(EHMT1):c.1414G>A (p.Ala472Thr)
NM_024757.5(EHMT1):c.1433G>A (p.Gly478Glu) rs376787713
NM_024757.5(EHMT1):c.1456_1457delinsAA (p.Ser486Asn) rs1564704339
NM_024757.5(EHMT1):c.145G>T (p.Ala49Ser) rs1372403007
NM_024757.5(EHMT1):c.149C>T (p.Ala50Val)
NM_024757.5(EHMT1):c.154G>A (p.Gly52Ser)
NM_024757.5(EHMT1):c.1583A>G (p.Lys528Arg)
NM_024757.5(EHMT1):c.159G>T (p.Glu53Asp) rs202066668
NM_024757.5(EHMT1):c.1613A>G (p.Asn538Ser)
NM_024757.5(EHMT1):c.1655G>A (p.Arg552Gln) rs747623277
NM_024757.5(EHMT1):c.1661C>A (p.Thr554Lys)
NM_024757.5(EHMT1):c.176A>G (p.Glu59Gly) rs1422691901
NM_024757.5(EHMT1):c.1792-9C>A rs1554878665
NM_024757.5(EHMT1):c.1814C>T (p.Pro605Leu)
NM_024757.5(EHMT1):c.184G>A (p.Asp62Asn)
NM_024757.5(EHMT1):c.1865A>G (p.Asn622Ser) rs184814386
NM_024757.5(EHMT1):c.188C>T (p.Ala63Val) rs138292762
NM_024757.5(EHMT1):c.193_198dup (p.Ser65_His66dup) rs756643740
NM_024757.5(EHMT1):c.2015G>A (p.Gly672Asp)
NM_024757.5(EHMT1):c.2026G>A (p.Gly676Arg) rs757416132
NM_024757.5(EHMT1):c.2096C>T (p.Thr699Met)
NM_024757.5(EHMT1):c.217A>G (p.Thr73Ala)
NM_024757.5(EHMT1):c.2186C>T (p.Ser729Leu) rs398124404
NM_024757.5(EHMT1):c.220C>G (p.Gln74Glu)
NM_024757.5(EHMT1):c.224A>G (p.Asp75Gly)
NM_024757.5(EHMT1):c.2347G>T (p.Ala783Ser) rs1564751310
NM_024757.5(EHMT1):c.234G>C (p.Arg78Ser)
NM_024757.5(EHMT1):c.2382+5G>A
NM_024757.5(EHMT1):c.23C>T (p.Ala8Val) rs375391530
NM_024757.5(EHMT1):c.2420G>A (p.Arg807Lys) rs1064796750
NM_024757.5(EHMT1):c.248A>G (p.Asp83Gly) rs770735510
NM_024757.5(EHMT1):c.2596G>A (p.Val866Ile) rs749645029
NM_024757.5(EHMT1):c.2608-3C>T rs1231552364
NM_024757.5(EHMT1):c.2642C>T (p.Thr881Ile) rs797045554
NM_024757.5(EHMT1):c.268C>T (p.Arg90Trp)
NM_024757.5(EHMT1):c.2712C>T (p.Asn904=)
NM_024757.5(EHMT1):c.2739G>A (p.Ala913=) rs764507326
NM_024757.5(EHMT1):c.2779G>A (p.Ala927Thr)
NM_024757.5(EHMT1):c.2864T>C (p.Val955Ala)
NM_024757.5(EHMT1):c.290C>T (p.Ser97Leu)
NM_024757.5(EHMT1):c.2921C>T (p.Thr974Met)
NM_024757.5(EHMT1):c.2927T>G (p.Leu976Arg)
NM_024757.5(EHMT1):c.2948C>A (p.Ser983Tyr)
NM_024757.5(EHMT1):c.2962G>A (p.Ala988Thr)
NM_024757.5(EHMT1):c.2963C>T (p.Ala988Val) rs1554896118
NM_024757.5(EHMT1):c.298G>A (p.Asp100Asn) rs540121859
NM_024757.5(EHMT1):c.3011G>T (p.Ser1004Ile)
NM_024757.5(EHMT1):c.3035+3G>A rs765407306
NM_024757.5(EHMT1):c.3082G>A (p.Ala1028Thr)
NM_024757.5(EHMT1):c.311C>T (p.Ala104Val) rs142199482
NM_024757.5(EHMT1):c.3148A>G (p.Met1050Val) rs1564811053
NM_024757.5(EHMT1):c.3186C>T (p.Cys1062=)
NM_024757.5(EHMT1):c.3226G>A (p.Gly1076Ser)
NM_024757.5(EHMT1):c.3253G>A (p.Asp1085Asn)
NM_024757.5(EHMT1):c.3294G>T (p.Glu1098Asp)
NM_024757.5(EHMT1):c.32C>T (p.Ala11Val) rs200636818
NM_024757.5(EHMT1):c.3304A>G (p.Ile1102Val) rs752508274
NM_024757.5(EHMT1):c.3322G>A (p.Ala1108Thr) rs199780189
NM_024757.5(EHMT1):c.3355G>A (p.Val1119Ile)
NM_024757.5(EHMT1):c.3356T>C (p.Val1119Ala)
NM_024757.5(EHMT1):c.336C>G (p.Asp112Glu) rs757250849
NM_024757.5(EHMT1):c.3374+3G>A
NM_024757.5(EHMT1):c.3375G>C (p.Arg1125Ser)
NM_024757.5(EHMT1):c.3377C>T (p.Ala1126Val) rs560251933
NM_024757.5(EHMT1):c.3392A>G (p.Tyr1131Cys)
NM_024757.5(EHMT1):c.3400C>T (p.Arg1134Trp)
NM_024757.5(EHMT1):c.3401G>A (p.Arg1134Gln) rs373174786
NM_024757.5(EHMT1):c.3417C>T (p.Gly1139=)
NM_024757.5(EHMT1):c.349A>G (p.Thr117Ala)
NM_024757.5(EHMT1):c.3562G>A (p.Asp1188Asn)
NM_024757.5(EHMT1):c.35G>C (p.Arg12Thr) rs777999570
NM_024757.5(EHMT1):c.35G>T (p.Arg12Met) rs777999570
NM_024757.5(EHMT1):c.3611A>T (p.Glu1204Val) rs759840211
NM_024757.5(EHMT1):c.3688C>T (p.Arg1230Cys)
NM_024757.5(EHMT1):c.3732G>C (p.Glu1244Asp)
NM_024757.5(EHMT1):c.3758T>C (p.Leu1253Pro)
NM_024757.5(EHMT1):c.376A>G (p.Ile126Val) rs773781896
NM_024757.5(EHMT1):c.3791G>A (p.Arg1264Gln)
NM_024757.5(EHMT1):c.37G>A (p.Gly13Arg)
NM_024757.5(EHMT1):c.3818G>A (p.Arg1273His) rs1564847357
NM_024757.5(EHMT1):c.3833_3841CCCAGGAGG[3] (p.1278_1280AQE[3])
NM_024757.5(EHMT1):c.3848A>C (p.Glu1283Ala) rs398124408
NM_024757.5(EHMT1):c.3883G>T (p.Ala1295Ser)
NM_024757.5(EHMT1):c.3884C>T (p.Ala1295Val) rs1225363386
NM_024757.5(EHMT1):c.3894A>G (p.Leu1298=) rs886063743
NM_024757.5(EHMT1):c.38G>A (p.Gly13Glu) rs925532395
NM_024757.5(EHMT1):c.396_397delinsTG (p.Gln133Glu) rs1554846569
NM_024757.5(EHMT1):c.405G>T (p.Gln135His) rs200982880
NM_024757.5(EHMT1):c.437C>T (p.Ser146Leu) rs142652443
NM_024757.5(EHMT1):c.444_445inv (p.Gly149Ser)
NM_024757.5(EHMT1):c.470G>A (p.Gly157Glu) rs1554846686
NM_024757.5(EHMT1):c.499G>A (p.Ala167Thr) rs141282876
NM_024757.5(EHMT1):c.500C>A (p.Ala167Asp)
NM_024757.5(EHMT1):c.512C>T (p.Thr171Met)
NM_024757.5(EHMT1):c.514C>T (p.Pro172Ser)
NM_024757.5(EHMT1):c.526C>G (p.Pro176Ala)
NM_024757.5(EHMT1):c.538G>T (p.Gly180Trp)
NM_024757.5(EHMT1):c.546G>T (p.Gly182=) rs767742300
NM_024757.5(EHMT1):c.586G>A (p.Ala196Thr)
NM_024757.5(EHMT1):c.610C>T (p.Arg204Cys) rs773281923
NM_024757.5(EHMT1):c.674G>A (p.Arg225Gln)
NM_024757.5(EHMT1):c.676G>A (p.Glu226Lys) rs1554852591
NM_024757.5(EHMT1):c.70G>A (p.Glu24Lys) rs373269573
NM_024757.5(EHMT1):c.737G>C (p.Arg246Pro)
NM_024757.5(EHMT1):c.755C>G (p.Pro252Arg)
NM_024757.5(EHMT1):c.770A>G (p.His257Arg)
NM_024757.5(EHMT1):c.92C>T (p.Pro31Leu)
NM_024757.5(EHMT1):c.932C>T (p.Thr311Met) rs142727972
NM_024757.5(EHMT1):c.95T>C (p.Met32Thr) rs1564627371
NM_024757.5(EHMT1):c.985G>C (p.Glu329Gln) rs538516467

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