ClinVar Miner

List of variants reported as benign for Senior-Boichis syndrome by Genome-Nilou Lab

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_016356.5(DCDC2):c.426-13C>T rs807703 0.98337
NM_016356.5(DCDC2):c.*3C>G rs9358755 0.72045
NM_153704.6(TMEM67):c.1066-3C>T rs3097427 0.65135
NM_153704.6(TMEM67):c.1810A>G (p.Ile604Val) rs3134031 0.64845
NM_016356.5(DCDC2):c.661A>G (p.Ser221Gly) rs2274305 0.51051
NM_016356.5(DCDC2):c.1017C>T (p.Val339=) rs9467075 0.13584

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