ClinVar Miner

List of variants reported as likely benign for KBG syndrome

Included ClinVar conditions (1):
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ClinVar version:
Total variants: 48
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HGVS dbSNP
NM_013275.6(ANKRD11):c.1080G>A (p.Pro360=)
NM_013275.6(ANKRD11):c.136G>A (p.Asp46Asn) rs144947610
NM_013275.6(ANKRD11):c.1413G>A (p.Lys471=) rs145731868
NM_013275.6(ANKRD11):c.1540C>T (p.Leu514=)
NM_013275.6(ANKRD11):c.1977C>T (p.Tyr659=)
NM_013275.6(ANKRD11):c.2373G>A (p.Lys791=) rs138267414
NM_013275.6(ANKRD11):c.2695G>A (p.Asp899Asn)
NM_013275.6(ANKRD11):c.282C>G (p.Ala94=) rs139469151
NM_013275.6(ANKRD11):c.3005G>A (p.Arg1002Gln) rs757870881
NM_013275.6(ANKRD11):c.3363T>C (p.Asp1121=)
NM_013275.6(ANKRD11):c.3969C>T (p.Val1323=) rs201938879
NM_013275.6(ANKRD11):c.3977C>T (p.Thr1326Met) rs144673419
NM_013275.6(ANKRD11):c.4236_4238AGA[1] (p.Glu1413del)
NM_013275.6(ANKRD11):c.4237G>A (p.Glu1413Lys) rs140373729
NM_013275.6(ANKRD11):c.4475_4498del (p.1484_1491LLRHHRDE[1])
NM_013275.6(ANKRD11):c.4887C>T (p.Asp1629=)
NM_013275.6(ANKRD11):c.5088C>G (p.Asp1696Glu) rs146205997
NM_013275.6(ANKRD11):c.5112C>A (p.Pro1704=) rs141292414
NM_013275.6(ANKRD11):c.5211C>T (p.Phe1737=)
NM_013275.6(ANKRD11):c.5274C>T (p.Pro1758=)
NM_013275.6(ANKRD11):c.5413G>A (p.Val1805Ile)
NM_013275.6(ANKRD11):c.541G>A (p.Ala181Thr) rs777123332
NM_013275.6(ANKRD11):c.5578C>T (p.Pro1860Ser) rs144516367
NM_013275.6(ANKRD11):c.5629C>T (p.Pro1877Ser) rs142527333
NM_013275.6(ANKRD11):c.5632T>C (p.Ser1878Pro) rs143743958
NM_013275.6(ANKRD11):c.5688C>G (p.Ala1896=)
NM_013275.6(ANKRD11):c.5694G>T (p.Leu1898=)
NM_013275.6(ANKRD11):c.5738C>A (p.Thr1913Asn) rs142373563
NM_013275.6(ANKRD11):c.5916C>T (p.Ser1972=) rs1025761111
NM_013275.6(ANKRD11):c.6065C>T (p.Pro2022Leu) rs373218212
NM_013275.6(ANKRD11):c.6140C>G (p.Ala2047Gly) rs199691161
NM_013275.6(ANKRD11):c.6193T>C (p.Phe2065Leu)
NM_013275.6(ANKRD11):c.6221A>C (p.Glu2074Ala)
NM_013275.6(ANKRD11):c.6261C>T (p.Ala2087=)
NM_013275.6(ANKRD11):c.6366C>T (p.Asp2122=) rs202049186
NM_013275.6(ANKRD11):c.6560C>T (p.Pro2187Leu)
NM_013275.6(ANKRD11):c.6597C>G (p.Leu2199=)
NM_013275.6(ANKRD11):c.6730G>A (p.Val2244Ile)
NM_013275.6(ANKRD11):c.6745C>T (p.Arg2249Cys) rs202081612
NM_013275.6(ANKRD11):c.6919C>T (p.Pro2307Ser) rs575642464
NM_013275.6(ANKRD11):c.6924C>T (p.Gly2308=) rs146575027
NM_013275.6(ANKRD11):c.6978C>T (p.Ala2326=)
NM_013275.6(ANKRD11):c.7683C>T (p.Ser2561=)
NM_013275.6(ANKRD11):c.7713+10G>A
NM_013275.6(ANKRD11):c.7713+8C>T
NM_013275.6(ANKRD11):c.7801A>C (p.Met2601Leu)
NM_013275.6(ANKRD11):c.7807-5C>T
NM_013275.6(ANKRD11):c.890C>T (p.Thr297Met) rs140998225

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