ClinVar Miner

List of variants in gene L1CAM reported as benign by Eurofins NTD LLC (GA)

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Gene type:
ClinVar version:
Total variants: 16
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HGVS dbSNP gnomAD frequency
NM_001278116.2(L1CAM):c.2209-6C>T rs7885771 0.05725
NM_001278116.2(L1CAM):c.1268-10C>T rs112841948 0.03467
NM_001278116.2(L1CAM):c.197+17G>A rs5987174 0.02545
NM_001278116.2(L1CAM):c.2307C>T (p.Ser769=) rs5987173 0.01697
NM_001278116.2(L1CAM):c.1704-14C>T rs140240430 0.01472
NM_001278116.2(L1CAM):c.2872C>G (p.Leu958Val) rs35902890 0.01086
NM_001278116.2(L1CAM):c.720G>A (p.Pro240=) rs35151382 0.01040
NM_001278116.2(L1CAM):c.28C>T (p.Pro10Ser) rs144605615 0.00970
NM_001278116.2(L1CAM):c.1977T>C (p.Pro659=) rs143382184 0.00854
NM_001278116.2(L1CAM):c.1002C>T (p.Tyr334=) rs73640833 0.00445
NM_001278116.2(L1CAM):c.3081G>A (p.Ala1027=) rs139393266 0.00285
NM_001278116.2(L1CAM):c.3519C>T (p.Phe1173=) rs142277193 0.00188
NM_001278116.2(L1CAM):c.396C>T (p.Ala132=) rs144708625 0.00131
NM_001278116.2(L1CAM):c.2211G>A (p.Pro737=) rs146782397 0.00035
NM_001278116.2(L1CAM):c.1547-4T>A rs200148275 0.00030
NM_001278116.2(L1CAM):c.3015C>T (p.Ile1005=) rs202082978 0.00002

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