ClinVar Miner

List of variants reported as uncertain significance for Goldberg-Shprintzen syndrome by Clinical Genetics, Erasmus University Medical Center

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_015634.4(KIFBP):c.68A>G (p.Glu23Gly) rs148768851 0.00669
NM_015634.4(KIFBP):c.1279A>G (p.Ser427Gly) rs370902866 0.00003
NM_015634.3:c.905_1020del
NM_015634.4(KIFBP):c.1516dup (p.Ile506fs) rs781469363
NM_015634.4(KIFBP):c.1694_1695del (p.Glu565fs) rs1216570912
NM_015634.4(KIFBP):c.565C>T (p.Pro189Ser) rs1589296239

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