List of variants in gene RPS7 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: 13

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HGVS	dbSNP	gnomAD frequency
NM_001011.4(RPS7):c.-104G>A	rs371620447	0.00022
NM_001011.4(RPS7):c.102G>A (p.Ser34=)	rs754617897	0.00010
NM_001011.4(RPS7):c.285C>T (p.Ile95=)	rs368931076	0.00004
NM_001011.4(RPS7):c.63C>T (p.Ser21=)	rs145376788	0.00003
NM_001011.4(RPS7):c.39C>T (p.Gly13=)	rs746686516	0.00001
NM_001011.4(RPS7):c.66C>T (p.Gly22=)	rs773617808	0.00001
NM_001011.4(RPS7):c.-109C>T	rs142444366
NM_001011.4(RPS7):c.234G>T (p.Arg78=)
NM_001011.4(RPS7):c.357-3dup	rs140914434
NM_001011.4(RPS7):c.398T>C (p.Leu133Ser)
NM_001011.4(RPS7):c.450C>G (p.Gly150=)
NM_001011.4(RPS7):c.539T>A (p.Leu180His)	rs1553343210
NM_001011.4(RPS7):c.65_75+2delinsCTGG

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