ClinVar Miner

List of variants in gene LAMP2 reported as uncertain significance by GeneDx

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Total variants: 41
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HGVS dbSNP gnomAD frequency
NM_002294.3(LAMP2):c.73C>T (p.Arg25Trp) rs730880478 0.00015
NM_002294.3(LAMP2):c.1093+2544A>G rs777128122 0.00009
NM_002294.3(LAMP2):c.769A>G (p.Asn257Asp) rs369032377 0.00009
NM_002294.3(LAMP2):c.515T>C (p.Leu172Pro) rs371174243 0.00007
NM_002294.3(LAMP2):c.824A>G (p.Asn275Ser) rs397516747 0.00007
NM_002294.3(LAMP2):c.443A>G (p.Asn148Ser) rs766491800 0.00006
NM_002294.3(LAMP2):c.1000G>C (p.Glu334Gln) rs766962315 0.00003
NM_002294.3(LAMP2):c.320C>G (p.Ser107Cys) rs730880497 0.00003
NM_002294.3(LAMP2):c.472A>G (p.Thr158Ala) rs138374063 0.00003
NM_002294.3(LAMP2):c.601A>G (p.Ile201Val) rs1362738445 0.00003
NM_002294.3(LAMP2):c.253G>A (p.Gly85Ser) rs371149731 0.00001
NM_002294.3(LAMP2):c.520C>A (p.Gln174Lys) rs104894857 0.00001
NM_002294.3(LAMP2):c.805A>G (p.Thr269Ala) rs1131691290 0.00001
NM_002294.3(LAMP2):c.-26_-15dup rs1556124241
NM_002294.3(LAMP2):c.1040C>G (p.Thr347Ser) rs730880487
NM_002294.3(LAMP2):c.1084T>C (p.Tyr362His)
NM_002294.3(LAMP2):c.1093+2434C>T rs2147277547
NM_002294.3(LAMP2):c.1093+2461A>G
NM_002294.3(LAMP2):c.1093+2581A>G
NM_002294.3(LAMP2):c.1094-1G>A rs1331940434
NM_002294.3(LAMP2):c.1114GAC[1] (p.Asp373del) rs730880494
NM_002294.3(LAMP2):c.1142_1156dup (p.Val381_Leu385dup) rs2147273190
NM_002294.3(LAMP2):c.183+3A>T rs2147287563
NM_002294.3(LAMP2):c.237T>G (p.Cys79Trp) rs2147286906
NM_002294.3(LAMP2):c.23C>G (p.Pro8Arg) rs878854484
NM_002294.3(LAMP2):c.260A>C (p.Lys87Thr) rs1556112678
NM_002294.3(LAMP2):c.316G>T (p.Ala106Ser) rs1305798857
NM_002294.3(LAMP2):c.339C>G (p.Ser113Arg) rs147369153
NM_002294.3(LAMP2):c.364G>A (p.Asp122Asn) rs730880480
NM_002294.3(LAMP2):c.379C>T (p.Pro127Ser) rs2147286737
NM_002294.3(LAMP2):c.380C>T (p.Pro127Leu) rs1200950486
NM_002294.3(LAMP2):c.458G>T (p.Cys153Phe) rs2058610425
NM_002294.3(LAMP2):c.459C>G (p.Cys153Trp) rs2147283067
NM_002294.3(LAMP2):c.467T>C (p.Leu156Ser) rs1385890053
NM_002294.3(LAMP2):c.715C>G (p.Leu239Val) rs730880481
NM_002294.3(LAMP2):c.71T>C (p.Val24Ala)
NM_002294.3(LAMP2):c.773C>G (p.Thr258Arg) rs111703410
NM_002294.3(LAMP2):c.815T>C (p.Leu272Pro) rs1569369217
NM_002294.3(LAMP2):c.887T>C (p.Leu296Pro) rs730880486
NM_002294.3(LAMP2):c.8G>A (p.Cys3Tyr) rs730880489
NM_002294.3(LAMP2):c.910T>C (p.Tyr304His) rs2147279498

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