ClinVar Miner

List of variants in gene NEK9 studied for multiple congenital anomalies/dysmorphic syndrome-intellectual disability

Included ClinVar conditions (406):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_033116.6(NEK9):c.2101C>T (p.Arg701Trp) rs1402196530 0.00001
NM_033116.6(NEK9):c.219G>C (p.Glu73Asp) rs2139820216

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