List of variants in gene LRPPRC reported as pathogenic for Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 11

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HGVS	dbSNP	gnomAD frequency
NM_133259.4(LRPPRC):c.1061C>T (p.Ala354Val)	rs119466000	0.00001
NM_133259.4(LRPPRC):c.1582+7A>G	rs863225446	0.00001
NM_133259.4(LRPPRC):c.864+2T>C	rs863224053	0.00001
LRPPRC, 8-BP DEL, EXON 35
NC_000002.12:g.43986415_44009956del
NM_133259.4(LRPPRC):c.1431T>G (p.Tyr477Ter)	rs746627889
NM_133259.4(LRPPRC):c.2595_2597del (p.Val866del)	rs863225444
NM_133259.4(LRPPRC):c.2723AGA[1] (p.Lys909del)	rs863225445
NM_133259.4(LRPPRC):c.3147dup (p.Gly1050fs)	rs769022521
NM_133259.4(LRPPRC):c.3900+1G>C	rs863225443
NM_133259.4(LRPPRC):c.4077C>G (p.Tyr1359Ter)	rs148828179

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