List of variants in gene L1CAM reported as uncertain significance by CeGaT Center for Human Genetics Tuebingen

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: 14

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HGVS	dbSNP	gnomAD frequency
NM_001278116.2(L1CAM):c.1993C>G (p.Leu665Val)	rs199592861	0.00010
NM_001278116.2(L1CAM):c.618C>A (p.Asp206Glu)	rs201474883	0.00007
NM_001278116.2(L1CAM):c.385C>T (p.Arg129Trp)	rs201978087	0.00003
NM_001278116.2(L1CAM):c.1387G>A (p.Glu463Lys)	rs202175564	0.00002
NM_001278116.2(L1CAM):c.1978G>A (p.Glu660Lys)	rs200688598	0.00002
NM_001278116.2(L1CAM):c.1180G>A (p.Val394Met)	rs782477425	0.00001
NM_001278116.2(L1CAM):c.666G>A (p.Lys222=)	rs782615469	0.00001
NM_001278116.2(L1CAM):c.1205C>G (p.Thr402Ser)	rs1222808372
NM_001278116.2(L1CAM):c.1234C>G (p.Leu412Val)
NM_001278116.2(L1CAM):c.1411G>A (p.Asp471Asn)	rs1603275442
NM_001278116.2(L1CAM):c.1972G>A (p.Ala658Thr)	rs2064725346
NM_001278116.2(L1CAM):c.3500C>T (p.Pro1167Leu)	rs2064682269
NM_001278116.2(L1CAM):c.3592G>C (p.Asp1198His)	rs1557089353
NM_001278116.2(L1CAM):c.595C>T (p.Leu199Phe)

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