ClinVar Miner

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

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 8
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NM_015634.4(KIFBP):c.1023G>A (p.Gln341=) rs16926021
NM_015634.4(KIFBP):c.1653C>T (p.Ala551=) rs35893997
NM_015634.4(KIFBP):c.196G>A (p.Gly66Ser) rs2255607
NM_015634.4(KIFBP):c.518T>C (p.Met173Thr) rs62625033
NM_015634.4(KIFBP):c.68A>G (p.Glu23Gly) rs148768851
NM_015634.4(KIFBP):c.78A>G (p.Lys26=) rs144067344

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