ClinVar Miner

List of variants in gene LAMP1 reported by Ambry Genetics

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Gene type:
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Total variants: 42
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HGVS dbSNP gnomAD frequency
NM_005561.4(LAMP1):c.74G>A (p.Cys25Tyr) rs200783496 0.00024
NM_005561.4(LAMP1):c.752C>T (p.Thr251Met) rs370286796 0.00010
NM_005561.4(LAMP1):c.75T>G (p.Cys25Trp) rs370111946 0.00009
NM_005561.4(LAMP1):c.893G>A (p.Arg298Gln) rs201021547 0.00009
NM_005561.4(LAMP1):c.389A>G (p.Asn130Ser) rs763705634 0.00006
NM_005561.4(LAMP1):c.772A>G (p.Ile258Val) rs780920291 0.00006
NM_005561.4(LAMP1):c.491A>G (p.Asn164Ser) rs375227374 0.00005
NM_005561.4(LAMP1):c.533A>G (p.Tyr178Cys) rs756331260 0.00005
NM_005561.4(LAMP1):c.1227G>C (p.Arg409Ser) rs375930278 0.00003
NM_005561.4(LAMP1):c.502G>A (p.Val168Ile) rs191812061 0.00003
NM_005561.4(LAMP1):c.977G>A (p.Arg326Gln) rs767455348 0.00003
NM_005561.4(LAMP1):c.1004C>G (p.Ser335Cys) rs779485504 0.00002
NM_005561.4(LAMP1):c.337G>A (p.Val113Ile) rs374537669 0.00002
NM_005561.4(LAMP1):c.967G>A (p.Gly323Ser) rs371034089 0.00002
NM_005561.4(LAMP1):c.1195G>A (p.Val399Ile) rs756990012 0.00001
NM_005561.4(LAMP1):c.1221G>C (p.Arg407Ser) rs371265207 0.00001
NM_005561.4(LAMP1):c.194T>C (p.Phe65Ser) rs751025906 0.00001
NM_005561.4(LAMP1):c.446T>C (p.Ile149Thr) rs755377731 0.00001
NM_005561.4(LAMP1):c.582C>A (p.Asp194Glu) rs770677734 0.00001
NM_005561.4(LAMP1):c.640C>T (p.Pro214Ser) rs777467422 0.00001
NM_005561.4(LAMP1):c.652T>C (p.Ser218Pro) rs2042685889 0.00001
NM_005561.4(LAMP1):c.928C>A (p.Leu310Ile) rs910985378 0.00001
NM_005561.4(LAMP1):c.94A>G (p.Met32Val) rs748693352 0.00001
NM_005561.4(LAMP1):c.1019C>T (p.Ala340Val)
NM_005561.4(LAMP1):c.1030G>A (p.Val344Ile)
NM_005561.4(LAMP1):c.1036G>A (p.Val346Ile)
NM_005561.4(LAMP1):c.1052C>T (p.Ser351Leu) rs2042701136
NM_005561.4(LAMP1):c.1216G>T (p.Gly406Cys)
NM_005561.4(LAMP1):c.129G>T (p.Met43Ile)
NM_005561.4(LAMP1):c.271G>A (p.Val91Met)
NM_005561.4(LAMP1):c.358T>G (p.Tyr120Asp)
NM_005561.4(LAMP1):c.389A>T (p.Asn130Ile) rs763705634
NM_005561.4(LAMP1):c.397T>C (p.Ser133Pro) rs2042620332
NM_005561.4(LAMP1):c.542A>G (p.Asn181Ser)
NM_005561.4(LAMP1):c.546C>G (p.Ser182Arg) rs749464893
NM_005561.4(LAMP1):c.679A>G (p.Thr227Ala)
NM_005561.4(LAMP1):c.748A>G (p.Thr250Ala)
NM_005561.4(LAMP1):c.749C>T (p.Thr250Met)
NM_005561.4(LAMP1):c.817C>A (p.Leu273Met)
NM_005561.4(LAMP1):c.871G>A (p.Gly291Arg)
NM_005561.4(LAMP1):c.880G>T (p.Ala294Ser) rs2504360877
NM_005561.4(LAMP1):c.980C>T (p.Ala327Val)

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