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

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 24

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HGVS	dbSNP	gnomAD frequency
NM_001278116.2(L1CAM):c.2302G>A (p.Val768Ile)	rs36021462	0.00178
NM_001278116.2(L1CAM):c.630C>T (p.His210=)	rs28933683	0.00031
NM_001278116.2(L1CAM):c.3192G>T (p.Ser1064=)	rs142563956	0.00028
NM_001278116.2(L1CAM):c.963C>T (p.Ala321=)	rs145823218	0.00021
NM_001278116.2(L1CAM):c.256G>A (p.Val86Met)	rs149309725	0.00017
NM_001278116.2(L1CAM):c.1993C>G (p.Leu665Val)	rs199592861	0.00010
NM_001278116.2(L1CAM):c.1107C>T (p.Asn369=)	rs200768501	0.00006
NM_001278116.2(L1CAM):c.2872+9G>A	rs398123363	0.00005
NM_001278116.2(L1CAM):c.386G>A (p.Arg129Gln)	rs200809259	0.00004
NM_001278116.2(L1CAM):c.2308G>A (p.Asp770Asn)	rs148516831	0.00003
NM_001278116.2(L1CAM):c.1249G>A (p.Ala417Thr)	rs782331927	0.00002
NM_001278116.2(L1CAM):c.1379+3G>A	rs782455321	0.00002
NM_001278116.2(L1CAM):c.1962C>T (p.Asp654=)	rs201372074	0.00002
NM_001278116.2(L1CAM):c.603C>T (p.Ser201=)	rs782223025	0.00002
NM_001278116.2(L1CAM):c.1880C>T (p.Thr627Met)	rs398123360	0.00001
NM_001278116.2(L1CAM):c.219T>C (p.Gly73=)	rs1443862182	0.00001
NM_001278116.2(L1CAM):c.591T>C (p.Asn197=)	rs375862497	0.00001
NM_001278116.2(L1CAM):c.860G>A (p.Arg287His)	rs200402620	0.00001
NM_001278116.2(L1CAM):c.1021A>C (p.Ser341Arg)	rs398123359
NM_001278116.2(L1CAM):c.1316T>C (p.Val439Ala)	rs797044634
NM_001278116.2(L1CAM):c.2137+5_2137+6insGGCAGGTGT	rs398123361
NM_001278116.2(L1CAM):c.23T>A (p.Val8Glu)	rs886044768
NM_001278116.2(L1CAM):c.2849G>A (p.Gly950Asp)	rs886044872
NM_001278116.2(L1CAM):c.3014T>C (p.Ile1005Thr)	rs398123365

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