ClinVar Miner

List of variants in gene L1CAM reported as uncertain significance by GeneDx

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Total variants: 64
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HGVS dbSNP gnomAD frequency
NM_001278116.2(L1CAM):c.3434G>A (p.Arg1145His) rs952497509 0.00007
NM_001278116.2(L1CAM):c.3523G>A (p.Glu1175Lys) rs1064796541 0.00003
NM_001278116.2(L1CAM):c.202C>T (p.Arg68Cys) rs1172761444 0.00002
NM_001278116.2(L1CAM):c.1418G>A (p.Arg473His) rs782516225 0.00001
NM_001278116.2(L1CAM):c.1841C>T (p.Pro614Leu) rs1557091552 0.00001
NM_001278116.2(L1CAM):c.1894C>G (p.Arg632Gly) rs782367123 0.00001
NM_001278116.2(L1CAM):c.2179G>A (p.Glu727Lys) rs1386982536 0.00001
NM_001278116.2(L1CAM):c.2722G>A (p.Glu908Lys) rs199822230 0.00001
NM_001278116.2(L1CAM):c.2758C>T (p.His920Tyr) rs2064701743 0.00001
NM_001278116.2(L1CAM):c.2911C>T (p.Arg971Trp) rs1057518490 0.00001
NM_001278116.2(L1CAM):c.3118G>A (p.Glu1040Lys) rs1557090130 0.00001
NM_001278116.2(L1CAM):c.3449A>G (p.Lys1150Arg) rs1391080419 0.00001
NM_001278116.2(L1CAM):c.726G>T (p.Leu242=) rs200813995 0.00001
NM_001278116.2(L1CAM):c.1066G>T (p.Val356Phe)
NM_001278116.2(L1CAM):c.1123+5G>A rs1557092385
NM_001278116.2(L1CAM):c.1292C>A (p.Ala431Glu) rs782779421
NM_001278116.2(L1CAM):c.1414G>A (p.Glu472Lys)
NM_001278116.2(L1CAM):c.1445T>C (p.Leu482Pro) rs1064794246
NM_001278116.2(L1CAM):c.1469_1474del (p.Asn490_Asp491del) rs1085307881
NM_001278116.2(L1CAM):c.1475C>T (p.Thr492Ile) rs2148496683
NM_001278116.2(L1CAM):c.1633C>T (p.Pro545Ser) rs782513182
NM_001278116.2(L1CAM):c.1678C>T (p.Leu560Phe) rs1414810082
NM_001278116.2(L1CAM):c.170G>A (p.Cys57Tyr) rs1057517755
NM_001278116.2(L1CAM):c.1900T>C (p.Ser634Pro) rs2148495976
NM_001278116.2(L1CAM):c.2006C>G (p.Pro669Arg)
NM_001278116.2(L1CAM):c.2029C>T (p.Leu677Phe)
NM_001278116.2(L1CAM):c.2042C>T (p.Pro681Leu) rs1557091354
NM_001278116.2(L1CAM):c.2209C>G (p.Pro737Ala)
NM_001278116.2(L1CAM):c.2234C>T (p.Ala745Val) rs2148495200
NM_001278116.2(L1CAM):c.2249A>C (p.Tyr750Ser) rs1064794855
NM_001278116.2(L1CAM):c.2249A>G (p.Tyr750Cys) rs1064794855
NM_001278116.2(L1CAM):c.2260T>A (p.Trp754Arg) rs2148495173
NM_001278116.2(L1CAM):c.2311C>T (p.Pro771Ser)
NM_001278116.2(L1CAM):c.2343C>G (p.Phe781Leu) rs369046420
NM_001278116.2(L1CAM):c.2368G>C (p.Ala790Pro)
NM_001278116.2(L1CAM):c.2416T>C (p.Tyr806His) rs2064716073
NM_001278116.2(L1CAM):c.2516_2517delinsAT (p.Ala839Asp) rs2148494375
NM_001278116.2(L1CAM):c.2539G>A (p.Gly847Arg) rs2148494337
NM_001278116.2(L1CAM):c.2648G>C (p.Ser883Thr)
NM_001278116.2(L1CAM):c.2748A>T (p.Gly916=)
NM_001278116.2(L1CAM):c.2900C>T (p.Ser967Phe)
NM_001278116.2(L1CAM):c.2978T>C (p.Leu993Pro) rs2148493621
NM_001278116.2(L1CAM):c.3046+5G>C
NM_001278116.2(L1CAM):c.3095G>A (p.Ser1032Asn) rs2148493445
NM_001278116.2(L1CAM):c.3140T>C (p.Phe1047Ser) rs2148493416
NM_001278116.2(L1CAM):c.3182C>A (p.Ala1061Asp)
NM_001278116.2(L1CAM):c.31CTC[2] (p.Leu13del) rs2064809071
NM_001278116.2(L1CAM):c.3226A>T (p.Thr1076Ser)
NM_001278116.2(L1CAM):c.3341C>T (p.Pro1114Leu)
NM_001278116.2(L1CAM):c.3352G>C (p.Ala1118Pro)
NM_001278116.2(L1CAM):c.3427A>G (p.Ile1143Val)
NM_001278116.2(L1CAM):c.3473A>G (p.Asp1158Gly)
NM_001278116.2(L1CAM):c.3476C>T (p.Thr1159Ile) rs2064682571
NM_001278116.2(L1CAM):c.3583C>G (p.Leu1195Val)
NM_001278116.2(L1CAM):c.3587A>G (p.Asn1196Ser) rs2148492028
NM_001278116.2(L1CAM):c.3613G>A (p.Asp1205Asn)
NM_001278116.2(L1CAM):c.400G>A (p.Gly134Ser) rs1557093353
NM_001278116.2(L1CAM):c.407C>T (p.Pro136Leu)
NM_001278116.2(L1CAM):c.452G>A (p.Gly151Glu) rs1064796291
NM_001278116.2(L1CAM):c.457T>A (p.Ser153Thr) rs2148499026
NM_001278116.2(L1CAM):c.641C>T (p.Pro214Leu)
NM_001278116.2(L1CAM):c.76+4A>T rs2148502509
NM_001278116.2(L1CAM):c.769G>A (p.Gly257Arg) rs2148498281
NM_001278116.2(L1CAM):c.895C>A (p.Leu299Met)

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