ClinVar Miner

List of variants in gene ANKRD11 reported as uncertain significance for KBG syndrome

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Total variants: 35
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HGVS dbSNP
NM_013275.6(ANKRD11):c.116C>T (p.Thr39Ile) rs149152296
NM_013275.6(ANKRD11):c.227-3_227-2del
NM_013275.6(ANKRD11):c.2684G>A (p.Arg895Gln) rs199800166
NM_013275.6(ANKRD11):c.2707C>T (p.Pro903Ser) rs764784295
NM_013275.6(ANKRD11):c.3046G>A (p.Asp1016Asn)
NM_013275.6(ANKRD11):c.3621G>C (p.Glu1207Asp)
NM_013275.6(ANKRD11):c.3836G>T (p.Ser1279Ile)
NM_013275.6(ANKRD11):c.3926C>T (p.Thr1309Met) rs779550492
NM_013275.6(ANKRD11):c.3942G>T (p.Glu1314Asp)
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.4630G>A (p.Asp1544Asn)
NM_013275.6(ANKRD11):c.4686C>T (p.Gly1562=)
NM_013275.6(ANKRD11):c.4990G>A (p.Ala1664Thr)
NM_013275.6(ANKRD11):c.5315C>T (p.Ser1772Leu)
NM_013275.6(ANKRD11):c.5316G>A (p.Ser1772=)
NM_013275.6(ANKRD11):c.5351C>T (p.Ser1784Phe) rs751323481
NM_013275.6(ANKRD11):c.5380G>A (p.Asp1794Asn)
NM_013275.6(ANKRD11):c.5786G>A (p.Ser1929Asn) rs1191174024
NM_013275.6(ANKRD11):c.6052_6060del (p.Pro2018_Ala2020del) rs775221712
NM_013275.6(ANKRD11):c.6083C>T (p.Pro2028Leu) rs1387729666
NM_013275.6(ANKRD11):c.6112_6132del (p.Lys2038_Val2044del) rs748553966
NM_013275.6(ANKRD11):c.6130G>A (p.Val2044Ile)
NM_013275.6(ANKRD11):c.630C>G (p.Asn210Lys)
NM_013275.6(ANKRD11):c.6436A>G (p.Lys2146Glu) rs1283976400
NM_013275.6(ANKRD11):c.6571C>T (p.Pro2191Ser)
NM_013275.6(ANKRD11):c.6580C>G (p.Gln2194Glu) rs201589586
NM_013275.6(ANKRD11):c.6959C>A (p.Thr2320Lys)
NM_013275.6(ANKRD11):c.6985G>A (p.Val2329Met)
NM_013275.6(ANKRD11):c.7095G>A (p.Pro2365=) rs1343429737
NM_013275.6(ANKRD11):c.7111G>T (p.Ala2371Ser)
NM_013275.6(ANKRD11):c.7494G>A (p.Ala2498=)
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.7758del (p.Gln2586fs)

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