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

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 9

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HGVS	dbSNP	gnomAD frequency
NM_133259.4(LRPPRC):c.2210+4A>C	rs190007694	0.00009
NM_133259.4(LRPPRC):c.2398G>A (p.Gly800Ser)	rs747400412	0.00001
NM_133259.4(LRPPRC):c.650+1G>C	rs1249427615	0.00001
NM_133259.4(LRPPRC):c.695A>G (p.Glu232Gly)	rs765911841	0.00001
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

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