ClinVar Miner

List of variants in gene LRPPRC reported as pathogenic by Invitae

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Total variants: 19
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HGVS dbSNP
NM_133259.4(LRPPRC):c.1061C>T (p.Ala354Val) rs119466000
NM_133259.4(LRPPRC):c.1092_1095del (p.Glu366fs)
NM_133259.4(LRPPRC):c.1267del (p.Ala423fs)
NM_133259.4(LRPPRC):c.1431T>G (p.Tyr477Ter)
NM_133259.4(LRPPRC):c.1722_1723del (p.Gly576fs) rs750343121
NM_133259.4(LRPPRC):c.1865_1868del (p.Ile622fs) rs752914914
NM_133259.4(LRPPRC):c.1914_1917del (p.Ile639fs)
NM_133259.4(LRPPRC):c.2395A>T (p.Arg799Ter)
NM_133259.4(LRPPRC):c.277_278insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNCCACCGACCCCAGCCCGCGGCGCCTTCGAGCCTTCTCTTGACGTTGTTTTCAAATAATCATAGTTGCCAGGAAAGAAGCCACTACCCGAGACTAGATCTTT (p.Ser93delinsPhePhePhePhePhePhePheXaaXaaXaaXaaThrAspProSerProArgArgLeuArgAlaPheSerTer)
NM_133259.4(LRPPRC):c.283C>T (p.Arg95Ter)
NM_133259.4(LRPPRC):c.3147dup (p.Gly1050fs) rs769022521
NM_133259.4(LRPPRC):c.334dup (p.Thr112fs)
NM_133259.4(LRPPRC):c.3397C>T (p.Gln1133Ter)
NM_133259.4(LRPPRC):c.3524C>G (p.Ser1175Ter)
NM_133259.4(LRPPRC):c.3626_3627del (p.Lys1209fs)
NM_133259.4(LRPPRC):c.3799del (p.Val1267fs) rs1572894174
NM_133259.4(LRPPRC):c.3981del (p.Tyr1328fs)
NM_133259.4(LRPPRC):c.4011dup (p.Lys1338Ter)
NM_133259.4(LRPPRC):c.601C>T (p.Gln201Ter) rs1553411748

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