ClinVar Miner

List of variants reported as benign for Goldberg-Shprintzen syndrome

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_015634.4(KIFBP):c.*422A>C rs6864 0.42385
NM_015634.4(KIFBP):c.*415C>T rs1058645 0.05632
NM_015634.4(KIFBP):c.1023G>A (p.Gln341=) rs16926021 0.05556
NM_015634.4(KIFBP):c.1653C>T (p.Ala551=) rs35893997 0.04974
NM_015634.4(KIFBP):c.68A>G (p.Glu23Gly) rs148768851 0.00669
NM_015634.4(KIFBP):c.518T>C (p.Met173Thr) rs62625033 0.00605
NM_015634.4(KIFBP):c.78A>G (p.Lys26=) rs144067344 0.00059
NM_015634.4(KIFBP):c.196G>A (p.Gly66Ser) rs2255607

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