ClinVar Miner

List of variants in gene NCAM2 reported as benign for NCAM2-related disorder

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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_004540.5(NCAM2):c.1049T>C (p.Leu350Pro) rs232518 0.35740
NM_004540.5(NCAM2):c.2157A>G (p.Thr719=) rs2017705 0.14317
NM_004540.5(NCAM2):c.1039G>A (p.Asp347Asn) rs35654962 0.01322
NM_004540.5(NCAM2):c.1422T>C (p.Asn474=) rs986371 0.00742
NM_004540.5(NCAM2):c.1957T>C (p.Leu653=) rs143579715 0.00733
NM_004540.5(NCAM2):c.130+6T>C rs75625065 0.00318
NM_004540.5(NCAM2):c.504C>T (p.Asn168=) rs145537614 0.00293

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