ClinVar Miner

List of variants reported as likely benign for Goldberg-Shprintzen syndrome

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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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.1761T>C (p.Pro587=) rs41279644 0.00520
NM_015634.4(KIFBP):c.990+11C>T rs570851893 0.00003
NM_015634.4(KIFBP):c.202G>C (p.Gly68Arg) rs201068859

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