ClinVar Miner

List of variants in gene ANKRD11 studied for KBG syndrome

Included ClinVar conditions (1):
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Total variants: 81
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HGVS dbSNP
NC_000016.10:g.89282616G>A
NC_000016.9:g.(?_89334866)_(89355098_?)del
NM_001256182:c.7545delG
NM_013275.6(ANKRD11):c.116C>T (p.Thr39Ile)
NM_013275.6(ANKRD11):c.1372C>T (p.Arg458Ter)
NM_013275.6(ANKRD11):c.1458_1459AG[2] (p.Ser488fs) rs1555529645
NM_013275.6(ANKRD11):c.1621C>T (p.Gln541Ter)
NM_013275.6(ANKRD11):c.1679C>G (p.Ser560Ter) rs1555529551
NM_013275.6(ANKRD11):c.1898_1902AAACA[1] (p.Lys635fs) rs886041125
NM_013275.6(ANKRD11):c.1948C>T (p.Gln650Ter) rs1567579525
NM_013275.6(ANKRD11):c.1977C>G (p.Tyr659Ter) rs749201074
NM_013275.6(ANKRD11):c.2006A>C (p.Asp669Ala)
NM_013275.6(ANKRD11):c.2047_2048del (p.Lys683fs) rs1567579092
NM_013275.6(ANKRD11):c.2171_2174CAAA[1] (p.Asn725fs) rs886039734
NM_013275.6(ANKRD11):c.2197C>T (p.Arg733Ter) rs886041791
NM_013275.6(ANKRD11):c.2273_2274del (p.Leu758fs)
NM_013275.6(ANKRD11):c.2305del (p.Ser769fs) rs863223320
NM_013275.6(ANKRD11):c.2327T>G (p.Leu776Ter)
NM_013275.6(ANKRD11):c.2398_2401del (p.Glu800fs) rs797045027
NM_013275.6(ANKRD11):c.2404_2407del (p.Leu802fs) rs1555529181
NM_013275.6(ANKRD11):c.2408_2412del (p.Lys803fs) rs886039902
NM_013275.6(ANKRD11):c.2409_2412del (p.Glu805fs) rs886039902
NM_013275.6(ANKRD11):c.2454dup (p.Asn819Ter)
NM_013275.6(ANKRD11):c.2609_2612dup (p.Asp871fs)
NM_013275.6(ANKRD11):c.2647G>T (p.Glu883Ter) rs1135401804
NM_013275.6(ANKRD11):c.2684G>A (p.Arg895Gln) rs199800166
NM_013275.6(ANKRD11):c.2704G>T (p.Glu902Ter)
NM_013275.6(ANKRD11):c.2707C>T (p.Pro903Ser)
NM_013275.6(ANKRD11):c.2716C>T (p.Arg906Ter)
NM_013275.6(ANKRD11):c.2824_2825AG[1] (p.Arg942fs)
NM_013275.6(ANKRD11):c.3084C>A (p.Tyr1028Ter) rs1064793539
NM_013275.6(ANKRD11):c.3122C>A (p.Ser1041Ter) rs1057518663
NM_013275.6(ANKRD11):c.3198_3199del (p.His1066fs) rs1567574291
NM_013275.6(ANKRD11):c.3220_3223AAAG[1] (p.Glu1075fs) rs1064794330
NM_013275.6(ANKRD11):c.3562C>T (p.Arg1188Ter) rs761848111
NM_013275.6(ANKRD11):c.3632_3633del (p.Lys1211fs) rs1555528400
NM_013275.6(ANKRD11):c.3706C>T (p.Gln1236Ter) rs1555528356
NM_013275.6(ANKRD11):c.3708_3709del (p.Lys1237fs) rs1567572265
NM_013275.6(ANKRD11):c.3770_3771del (p.Lys1257fs) rs886039477
NM_013275.6(ANKRD11):c.3770_3773del (p.Lys1257fs) rs1567571990
NM_013275.6(ANKRD11):c.4206C>G (p.Tyr1402Ter) rs749632782
NM_013275.6(ANKRD11):c.4270del (p.Ser1424fs)
NM_013275.6(ANKRD11):c.4288A>T (p.Lys1430Ter) rs1555527929
NM_013275.6(ANKRD11):c.4394A>G (p.His1465Arg) rs960634497
NM_013275.6(ANKRD11):c.4609G>A (p.Gly1537Ser) rs1347006212
NM_013275.6(ANKRD11):c.5053del (p.His1684_Met1685insTer) rs1555527341
NM_013275.6(ANKRD11):c.5065del (p.Leu1689fs) rs1567566026
NM_013275.6(ANKRD11):c.5351C>T (p.Ser1784Phe)
NM_013275.6(ANKRD11):c.541G>A (p.Ala181Thr) rs777123332
NM_013275.6(ANKRD11):c.5504del (p.Leu1835fs) rs1057519399
NM_013275.6(ANKRD11):c.5682dup (p.Arg1895fs)
NM_013275.6(ANKRD11):c.5786G>A (p.Ser1929Asn)
NM_013275.6(ANKRD11):c.5951_5952CA[1] (p.Gln1985fs) rs863223321
NM_013275.6(ANKRD11):c.6015dup (p.Gly2006fs) rs879253753
NM_013275.6(ANKRD11):c.6052_6060del (p.Pro2018_Ala2020del) rs775221712
NM_013275.6(ANKRD11):c.6083C>T (p.Pro2028Leu)
NM_013275.6(ANKRD11):c.6112_6132del (p.Lys2038_Val2044del) rs748553966
NM_013275.6(ANKRD11):c.618del (p.His206fs)
NM_013275.6(ANKRD11):c.6197_6198delinsAA (p.Phe2066Ter) rs1555525977
NM_013275.6(ANKRD11):c.6210_6211del (p.Lys2070fs) rs863225257
NM_013275.6(ANKRD11):c.6212C>G (p.Ser2071Ter) rs763407068
NM_013275.6(ANKRD11):c.6436A>G (p.Lys2146Glu)
NM_013275.6(ANKRD11):c.6472G>T (p.Glu2158Ter) rs869312713
NM_013275.6(ANKRD11):c.6580C>G (p.Gln2194Glu) rs201589586
NM_013275.6(ANKRD11):c.6581A>G (p.Gln2194Arg) rs1364705691
NM_013275.6(ANKRD11):c.6670G>T (p.Glu2224Ter) rs1381957912
NM_013275.6(ANKRD11):c.6742C>T (p.Gln2248Ter)
NM_013275.6(ANKRD11):c.6786_6787insA (p.Pro2263fs) rs1135401815
NM_013275.6(ANKRD11):c.6792del (p.Ala2265fs) rs878855327
NM_013275.6(ANKRD11):c.6805_6806TG[1] (p.Ala2270fs)
NM_013275.6(ANKRD11):c.6847C>T (p.Gln2283Ter) rs1221781038
NM_013275.6(ANKRD11):c.6919C>T (p.Pro2307Ser) rs575642464
NM_013275.6(ANKRD11):c.6968_6975del (p.Ala2323fs) rs1555525115
NM_013275.6(ANKRD11):c.7095G>A (p.Pro2365=) rs1343429737
NM_013275.6(ANKRD11):c.7570-1G>C rs863223319
NM_013275.6(ANKRD11):c.7618C>T (p.Arg2540Trp) rs1555523386
NM_013275.6(ANKRD11):c.7735C>T (p.Arg2579Cys) rs1567537413
NM_013275.6(ANKRD11):c.7751C>A (p.Ala2584Asp) rs1555521799
NM_013275.6(ANKRD11):c.867C>A (p.Tyr289Ter) rs761636251
NM_013275.6(ANKRD11):c.893-1G>C rs1567583835
NM_013275.6(ANKRD11):c.977del (p.Gly326fs) rs1555529979

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