ClinVar Miner

List of variants in gene NECTIN1 reported as benign for cleft lip/palate-ectodermal dysplasia syndrome

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 7
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HGVS dbSNP gnomAD frequency
NC_000011.10:g.119639934A>C rs7940667 0.86377
NM_002855.5(NECTIN1):c.*3301T>C rs11217380 0.13736
NM_002855.5(NECTIN1):c.*2857A>C rs7944707 0.06739
NM_002855.5(NECTIN1):c.*727T>C rs11603655 0.05988
NM_002855.5(NECTIN1):c.*537C>T rs114119887 0.02222
NM_002855.5(NECTIN1):c.130G>A (p.Gly44Ser) rs137991779 0.00077
NM_002855.5(NECTIN1):c.1310AGG[9] (p.Glu444dup) rs137909701

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