ClinVar Miner

List of variants in gene LRPPRC reported as likely pathogenic by GeneDx

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Total variants: 8
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HGVS dbSNP
NM_133259.4(LRPPRC):c.2210+4A>C rs190007694
NM_133259.4(LRPPRC):c.2398G>A (p.Gly800Ser) rs747400412
NM_133259.4(LRPPRC):c.2423T>G (p.Leu808Trp) rs863224057
NM_133259.4(LRPPRC):c.2966G>A (p.Arg989His) rs774857058
NM_133259.4(LRPPRC):c.3566dup (p.Asn1190fs) rs762254417
NM_133259.4(LRPPRC):c.3809C>T (p.Ala1270Val) rs863224058
NM_133259.4(LRPPRC):c.3952G>T (p.Glu1318Ter) rs1266345519
NM_133259.4(LRPPRC):c.695A>G (p.Glu232Gly) rs765911841

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