ClinVar Miner

List of variants reported as pathogenic for KBG syndrome by Baylor Genetics

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 12
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HGVS dbSNP
NM_013275.6(ANKRD11):c.1458_1459AG[2] (p.Ser488fs) rs1555529645
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.2047_2048del (p.Lys683fs) rs1567579092
NM_013275.6(ANKRD11):c.2398_2401del (p.Glu800fs) rs797045027
NM_013275.6(ANKRD11):c.3122C>A (p.Ser1041Ter) rs1057518663
NM_013275.6(ANKRD11):c.3220_3223AAAG[1] (p.Glu1075fs) rs1064794330
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.5065del (p.Leu1689fs) rs1567566026
NM_013275.6(ANKRD11):c.867C>A (p.Tyr289Ter) rs761636251
NM_013275.6(ANKRD11):c.893-1G>C rs1567583835

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