ClinVar Miner

List of variants in gene LAMP2 reported by Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

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Total variants: 75
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HGVS dbSNP gnomAD frequency
NM_002294.3(LAMP2):c.156A>T (p.Val52=) rs12097 0.39324
NM_002294.3(LAMP2):c.927C>T (p.Ser309=) rs73219144 0.02702
NM_002294.3(LAMP2):c.*2746A>G rs3827478 0.01396
NM_002294.3(LAMP2):c.1093+2514G>A rs144140265 0.00404
NM_002294.3(LAMP2):c.661G>A (p.Gly221Arg) rs145169006 0.00193
NM_002294.3(LAMP2):c.755T>G (p.Ile252Ser) rs141541387 0.00119
NM_002294.3(LAMP2):c.339C>T (p.Ser113=) rs147369153 0.00066
NM_002294.3(LAMP2):c.*15T>C rs376806600 0.00042
NM_002294.3(LAMP2):c.586A>T (p.Thr196Ser) rs138991195 0.00039
NM_002294.3(LAMP2):c.-10C>T rs201209341 0.00028
NM_002294.3(LAMP2):c.1142T>C (p.Val381Ala) rs139633545 0.00026
NM_002294.3(LAMP2):c.741+11C>T rs149155417 0.00024
NM_002294.3(LAMP2):c.1093+2450G>A rs149783672 0.00015
NM_002294.3(LAMP2):c.591G>A (p.Val197=) rs201030806 0.00014
NM_002294.3(LAMP2):c.42C>T (p.Leu14=) rs727503122 0.00009
NM_002294.3(LAMP2):c.824A>G (p.Asn275Ser) rs397516747 0.00007
NM_002294.3(LAMP2):c.158G>A (p.Arg53His) rs397516735 0.00005
NM_002294.3(LAMP2):c.32G>T (p.Gly11Val) rs3180515 0.00005
NM_002294.3(LAMP2):c.1093+2589C>T rs377303143 0.00004
NM_002294.3(LAMP2):c.299C>T (p.Ala100Val) rs397516741 0.00004
NM_002294.3(LAMP2):c.517G>A (p.Val173Ile) rs141574558 0.00004
NM_002294.3(LAMP2):c.65-13T>A rs727503121 0.00004
NM_002294.3(LAMP2):c.276C>T (p.Phe92=) rs754577706 0.00003
NM_002294.3(LAMP2):c.472A>G (p.Thr158Ala) rs138374063 0.00003
NM_002294.3(LAMP2):c.277G>A (p.Gly93Arg) rs727504953 0.00002
NM_002294.3(LAMP2):c.*2773A>C rs397516587 0.00001
NM_002294.3(LAMP2):c.1093+2449C>T rs765143363 0.00001
NM_002294.3(LAMP2):c.1211A>T (p.His404Leu) rs727504957 0.00001
NM_002294.3(LAMP2):c.214G>A (p.Val72Met) rs778193991 0.00001
NM_002294.3(LAMP2):c.657A>G (p.Glu219=) rs876657484 0.00001
NM_002294.3(LAMP2):c.813A>G (p.Leu271=) rs876657485 0.00001
NM_001122606.1(LAMP2):c.(?_1094)_(1236_?)del
NM_002294.2(LAMP2):c.(?_398)-60_(741_?)+68del
NM_002294.2(LAMP2):c.(?_929)_(1233_?)del
NM_002294.3(LAMP2):c.-32GTCGCCGCC[1] rs193922648
NM_002294.3(LAMP2):c.-4G>A rs200297370
NM_002294.3(LAMP2):c.-4G>C rs200297370
NM_002294.3(LAMP2):c.1020del (p.Gly341fs) rs727504597
NM_002294.3(LAMP2):c.1093+1G>A rs727504742
NM_002294.3(LAMP2):c.1093+2538G>A rs1602530706
NM_002294.3(LAMP2):c.1093+2565C>G rs876657846
NM_002294.3(LAMP2):c.1117G>A (p.Asp373Asn) rs727503117
NM_002294.3(LAMP2):c.1193T>C (p.Ile398Thr) rs727504625
NM_002294.3(LAMP2):c.121del (p.Cys41fs) rs727504600
NM_002294.3(LAMP2):c.128_129dup (p.Ala44fs) rs730880344
NM_002294.3(LAMP2):c.183+1G>A rs727503120
NM_002294.3(LAMP2):c.183T>A (p.Tyr61Ter) rs397516736
NM_002294.3(LAMP2):c.183T>G (p.Tyr61Ter) rs397516736
NM_002294.3(LAMP2):c.184-7C>G rs397516737
NM_002294.3(LAMP2):c.191del (p.Val64fs) rs397516738
NM_002294.3(LAMP2):c.293G>A (p.Trp98Ter) rs397516740
NM_002294.3(LAMP2):c.294G>A (p.Trp98Ter) rs876657696
NM_002294.3(LAMP2):c.333T>C (p.Ile111=) rs397516742
NM_002294.3(LAMP2):c.371C>T (p.Thr124Ile) rs397516744
NM_002294.3(LAMP2):c.398-7T>C rs876657483
NM_002294.3(LAMP2):c.463del (p.Ser155fs) rs193922649
NM_002294.3(LAMP2):c.56T>G (p.Leu19Arg) rs397516745
NM_002294.3(LAMP2):c.602T>C (p.Ile201Thr) rs876657844
NM_002294.3(LAMP2):c.610A>C (p.Thr204Pro) rs876657845
NM_002294.3(LAMP2):c.65-2A>G rs397516743
NM_002294.3(LAMP2):c.672A>G (p.Ser224=) rs397516746
NM_002294.3(LAMP2):c.842A>G (p.Tyr281Cys) rs397516748
NM_002294.3(LAMP2):c.845T>G (p.Leu282Arg) rs397516749
NM_002294.3(LAMP2):c.851_852del (p.Phe284fs) rs727504648
NM_002294.3(LAMP2):c.855C>T (p.Val285=) rs397516750
NM_002294.3(LAMP2):c.864+1G>T rs727503119
NM_002294.3(LAMP2):c.864+3_864+6del rs397516751
NM_002294.3(LAMP2):c.865-1G>C rs397516752
NM_002294.3(LAMP2):c.865-3C>A rs397516753
NM_002294.3(LAMP2):c.877C>T (p.Arg293Ter) rs727503118
NM_002294.3(LAMP2):c.912T>G (p.Tyr304Ter) rs876657648
NM_002294.3(LAMP2):c.928G>A (p.Val310Ile) rs104894858
NM_002294.3(LAMP2):c.929-1G>A rs727504262
NM_002294.3(LAMP2):c.999del (p.Glu334fs) rs727504557
NM_013995.2(LAMP2):c.217dup (p.Thr73fs) rs397516739

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