ClinVar Miner

List of variants in gene LAMP2 studied for not provided

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Total variants: 53
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HGVS dbSNP
NM_001122606.1(LAMP2):c.1093+2514G>A rs144140265
NM_001122606.1(LAMP2):c.294G>A (p.Trp98Ter) rs876657696
NM_001122606.1(LAMP2):c.579_586delAACTTCAA (p.Lys193Asnfs) rs398123685
NM_001122606.1(LAMP2):c.669T>G (p.Tyr223Ter)
NM_001122606.1(LAMP2):c.833del (p.Ile279Leufs)
NM_002294.2(LAMP2):c.-23_-15delGTCGCCGCC rs193922648
NM_002294.2(LAMP2):c.-23_-16del rs1556124290
NM_002294.2(LAMP2):c.1000G>C (p.Glu334Gln) rs766962315
NM_002294.2(LAMP2):c.1040C>G (p.Thr347Ser) rs730880487
NM_002294.2(LAMP2):c.1075C>T (p.Gln359Ter) rs1057517940
NM_002294.2(LAMP2):c.1093+1G>A rs727504742
NM_002294.2(LAMP2):c.1117_1119delGAC (p.Asp373del) rs730880494
NM_002294.2(LAMP2):c.156A>T (p.Val52=) rs12097
NM_002294.2(LAMP2):c.183+5G>A rs730880479
NM_002294.2(LAMP2):c.184-1G>T rs1064796635
NM_002294.2(LAMP2):c.23C>G (p.Pro8Arg) rs878854484
NM_002294.2(LAMP2):c.23C>T (p.Pro8Leu) rs878854484
NM_002294.2(LAMP2):c.260A>C (p.Lys87Thr) rs1556112678
NM_002294.2(LAMP2):c.293G>A (p.Trp98Ter) rs397516740
NM_002294.2(LAMP2):c.320C>G (p.Ser107Cys) rs730880497
NM_002294.2(LAMP2):c.339C>G (p.Ser113Arg) rs147369153
NM_002294.2(LAMP2):c.364G>A (p.Asp122Asn) rs730880480
NM_002294.2(LAMP2):c.385G>A (p.Ala129Thr) rs149276836
NM_002294.2(LAMP2):c.461A>G (p.Asn154Ser) rs773525538
NM_002294.2(LAMP2):c.472A>G (p.Thr158Ala) rs138374063
NM_002294.2(LAMP2):c.515T>C (p.Leu172Pro) rs371174243
NM_002294.2(LAMP2):c.556+13T>A
NM_002294.2(LAMP2):c.586A>T (p.Thr196Ser) rs138991195
NM_002294.2(LAMP2):c.64+2T>A rs730880490
NM_002294.2(LAMP2):c.65-1G>C rs730880496
NM_002294.2(LAMP2):c.651dupA (p.Pro218Thrfs) rs730880493
NM_002294.2(LAMP2):c.659dupC (p.Gly221Trpfs) rs1556101640
NM_002294.2(LAMP2):c.661G>A (p.Gly221Arg) rs145169006
NM_002294.2(LAMP2):c.715C>G (p.Leu239Val) rs730880481
NM_002294.2(LAMP2):c.718C>T (p.Gln240Ter) rs1556101420
NM_002294.2(LAMP2):c.73C>T (p.Arg25Trp) rs730880478
NM_002294.2(LAMP2):c.769A>G (p.Asn257Asp) rs369032377
NM_002294.2(LAMP2):c.795C>A (p.Cys265Ter) rs730880483
NM_002294.2(LAMP2):c.797G>A (p.Arg266His) rs200934351
NM_002294.2(LAMP2):c.805A>G (p.Thr269Ala) rs1131691290
NM_002294.2(LAMP2):c.864+1G>A rs727503119
NM_002294.2(LAMP2):c.864+1G>T rs727503119
NM_002294.2(LAMP2):c.864+2T>C rs730880485
NM_002294.2(LAMP2):c.864+3_864+6delGAGT rs397516751
NM_002294.2(LAMP2):c.877C>T (p.Arg293Ter) rs727503118
NM_002294.2(LAMP2):c.887T>C (p.Leu296Pro) rs730880486
NM_002294.2(LAMP2):c.8G>A (p.Cys3Tyr) rs730880489
NM_002294.2(LAMP2):c.927C>T (p.Ser309=) rs73219144
NM_002294.2(LAMP2):c.928G>A (p.Val310Ile) rs104894858
NM_002294.2(LAMP2):c.929-1G>A rs727504262
NM_002294.2(LAMP2):c.929-2A>G rs1556092556
NM_002294.2(LAMP2):c.974delT (p.Leu325Argfs) rs730880498
NM_013995.2(LAMP2):c.1A>T (p.Met1Leu) rs1556124149

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