ClinVar Miner

List of variants in gene L1CAM studied for X-linked disease

Included ClinVar conditions (277):
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Total variants: 73
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HGVS dbSNP gnomAD frequency
NM_001278116.2(L1CAM):c.-109+1811dup rs77883713 0.99995
NM_001278116.2(L1CAM):c.-109+95_-109+96insGCCG rs58566947 0.99995
NM_001278116.2(L1CAM):c.2657G>A (p.Arg886Gln) rs142603269 0.00028
NM_001278116.2(L1CAM):c.113C>T (p.Thr38Met) rs201151358 0.00027
NM_001278116.2(L1CAM):c.649A>C (p.Arg217=) rs201204893 0.00015
NM_001278116.2(L1CAM):c.3589G>A (p.Gly1197Arg) rs781814421 0.00007
NM_001278116.2(L1CAM):c.3760G>A (p.Val1254Met) rs200498314 0.00006
NM_001278116.2(L1CAM):c.1220G>A (p.Arg407His) rs139197516 0.00004
NM_001278116.2(L1CAM):c.385C>T (p.Arg129Trp) rs201978087 0.00003
NM_001278116.2(L1CAM):c.1433C>A (p.Ala478Asp) rs1298830102 0.00002
NM_001278116.2(L1CAM):c.2515G>C (p.Ala839Pro) rs782149002 0.00002
NM_001278116.2(L1CAM):c.892C>G (p.Gln298Glu) rs202074293 0.00002
NM_001278116.2(L1CAM):c.2179G>A (p.Glu727Lys) rs1386982536 0.00001
NM_001278116.2(L1CAM):c.3118G>A (p.Glu1040Lys) rs1557090130 0.00001
NM_001278116.2(L1CAM):c.925G>A (p.Glu309Lys) rs367665974 0.00001
L1CAM, 1.3-KB DUP
NM_001278116.2(L1CAM):c.-109+234del rs199975679
NM_001278116.2(L1CAM):c.-109+238_-109+239insGG rs143464562
NM_001278116.2(L1CAM):c.1108G>A (p.Gly370Arg) rs137852524
NM_001278116.2(L1CAM):c.1216G>T (p.Ala406Ser) rs2064747784
NM_001278116.2(L1CAM):c.1224C>G (p.Asn408Lys) rs994675918
NM_001278116.2(L1CAM):c.1231G>T (p.Gly411Trp) rs1262433336
NM_001278116.2(L1CAM):c.1253A>G (p.Tyr418Cys)
NM_001278116.2(L1CAM):c.1268-1G>A rs1603275538
NM_001278116.2(L1CAM):c.1354G>A (p.Gly452Arg) rs137852520
NM_001278116.2(L1CAM):c.1380-1G>A
NM_001278116.2(L1CAM):c.139_140del (p.Val47fs) rs2064782292
NM_001278116.2(L1CAM):c.1408C>T (p.Gln470Ter) rs1064793163
NM_001278116.2(L1CAM):c.1453C>T (p.Arg485Ter) rs886039407
NM_001278116.2(L1CAM):c.1565_1566del (p.Gln522fs) rs2521001058
NM_001278116.2(L1CAM):c.1570C>T (p.Pro524Ser) rs1569544754
NM_001278116.2(L1CAM):c.1615T>G (p.Cys539Gly) rs886041102
NM_001278116.2(L1CAM):c.1703+5G>A rs2520999577
NM_001278116.2(L1CAM):c.1727T>C (p.Leu576Pro)
NM_001278116.2(L1CAM):c.1939+5G>A rs879253716
NM_001278116.2(L1CAM):c.2220G>A (p.Trp740Ter) rs2520986268
NM_001278116.2(L1CAM):c.2254G>A (p.Val752Met) rs137852525
NM_001278116.2(L1CAM):c.2278C>T (p.Arg760Ter) rs797045673
NM_001278116.2(L1CAM):c.2296C>T (p.Gln766Ter) rs2520985267
NM_001278116.2(L1CAM):c.2376C>G (p.Asn792Lys) rs2520984340
NM_001278116.2(L1CAM):c.2380C>T (p.Gln794Ter) rs875989884
NM_001278116.2(L1CAM):c.2399C>A (p.Pro800His) rs2148495027
NM_001278116.2(L1CAM):c.2421_2422del (p.Gly808fs) rs879253715
NM_001278116.2(L1CAM):c.2432-19A>C rs879253713
NM_001278116.2(L1CAM):c.2434C>G (p.Pro812Ala) rs2520978759
NM_001278116.2(L1CAM):c.2440dup (p.Ala814fs) rs1603274424
NM_001278116.2(L1CAM):c.2516_2517delinsAT (p.Ala839Asp) rs2148494375
NM_001278116.2(L1CAM):c.2555del (p.Tyr852fs) rs2520975915
NM_001278116.2(L1CAM):c.2575_2576del (p.Arg859fs)
NM_001278116.2(L1CAM):c.2596_2597del (p.Ile866fs) rs2148494128
NM_001278116.2(L1CAM):c.2848_2849del (p.Gly950fs) rs2520972097
NM_001278116.2(L1CAM):c.2965T>A (p.Tyr989Asn)
NM_001278116.2(L1CAM):c.3046+1G>A rs1557090220
NM_001278116.2(L1CAM):c.3047-2A>T
NM_001278116.2(L1CAM):c.3170_3174del
NM_001278116.2(L1CAM):c.3233G>A (p.Trp1078Ter) rs2520965527
NM_001278116.2(L1CAM):c.3271_3300del (p.Phe1091_Met1100del)
NM_001278116.2(L1CAM):c.3458-1G>C rs879253724
NM_001278116.2(L1CAM):c.3581C>T (p.Ser1194Leu) rs137852522
NM_001278116.2(L1CAM):c.3G>A (p.Met1Ile) rs1603277433
NM_001278116.2(L1CAM):c.421_425dup (p.Val143fs)
NM_001278116.2(L1CAM):c.551G>A (p.Arg184Gln) rs137852521
NM_001278116.2(L1CAM):c.574_582dup (p.Tyr194_Phe195insAsnLeuTyr) rs2148498765
NM_001278116.2(L1CAM):c.604G>A (p.Asp202Asn) rs1603276146
NM_001278116.2(L1CAM):c.605A>G (p.Asp202Gly) rs2521024037
NM_001278116.2(L1CAM):c.704T>C (p.Met235Thr) rs1557092782
NM_001278116.2(L1CAM):c.719C>T (p.Pro240Leu) rs137852526
NM_001278116.2(L1CAM):c.743C>A (p.Ser248Tyr) rs782163019
NM_001278116.2(L1CAM):c.791G>A (p.Cys264Tyr) rs137852518
NM_001278116.2(L1CAM):c.807-6G>A rs886039405
NM_001278116.2(L1CAM):c.913G>A (p.Glu305Lys)
NM_001278116.2(L1CAM):c.924C>T (p.Gly308=) rs797044787
NM_001278116.2(L1CAM):c.985G>A (p.Val329Met) rs2148497835

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