ClinVar Miner

List of variants in gene RPL27 studied for Diamond-Blackfan anemia 16

Included ClinVar conditions (1):

Diamond-Blackfan anemia 16

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: 2

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HGVS	dbSNP	gnomAD frequency
NM_000988.5(RPL27):c.362+17A>C	rs11871636	0.75428
NM_000988.5(RPL27):c.403C>T (p.Arg135Trp)	rs146328911	0.00016

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