List of variants in gene RPL19 studied for Diamond-Blackfan anemia

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 12

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HGVS	dbSNP	gnomAD frequency
NM_000981.4(RPL19):c.222G>A (p.Arg74=)	rs201777990	0.00073
NM_000981.4(RPL19):c.369G>A (p.Leu123=)	rs370663313	0.00040
NM_000981.4(RPL19):c.426C>T (p.Ile142=)	rs557578994	0.00032
NM_000981.4(RPL19):c.93A>G (p.Glu31=)	rs377198587	0.00001
NM_000981.4(RPL19):c.126G>C (p.Arg42=)
NM_000981.4(RPL19):c.190C>A (p.Arg64=)	rs2228666
NM_000981.4(RPL19):c.210C>T (p.Arg70=)
NM_000981.4(RPL19):c.456G>A (p.Lys152=)
NM_000981.4(RPL19):c.534G>A (p.Gln178=)	rs72823350
NM_000981.4(RPL19):c.537C>G (p.Ala179=)
NM_000981.4(RPL19):c.564A>G (p.Leu188=)	rs758902267
NM_000981.4(RPL19):c.585G>A (p.Lys195=)	rs751845105

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