ClinVar Miner

List of variants reported as uncertain significance for KBG syndrome by Invitae

Included ClinVar conditions (1):
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Total variants: 12
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HGVS dbSNP
NM_013275.6(ANKRD11):c.116C>T (p.Thr39Ile)
NM_013275.6(ANKRD11):c.2684G>A (p.Arg895Gln) rs199800166
NM_013275.6(ANKRD11):c.2707C>T (p.Pro903Ser)
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.5351C>T (p.Ser1784Phe)
NM_013275.6(ANKRD11):c.5786G>A (p.Ser1929Asn)
NM_013275.6(ANKRD11):c.6083C>T (p.Pro2028Leu)
NM_013275.6(ANKRD11):c.6436A>G (p.Lys2146Glu)
NM_013275.6(ANKRD11):c.6580C>G (p.Gln2194Glu) rs201589586
NM_013275.6(ANKRD11):c.7095G>A (p.Pro2365=) rs1343429737
NM_013275.6(ANKRD11):c.7735C>T (p.Arg2579Cys) rs1567537413

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