List of variants studied for Diamond-Blackfan anemia by Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard

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Total variants: 12

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HGVS	dbSNP	gnomAD frequency
GRCh38/hg38 15q25.2(chr15:82130136-82727529)x1
GRCh38/hg38 3q29(chr3:197681032-198111976)x1
NM_000975.5(RPL11):c.60_61del (p.Cys21fs)	rs1570566590
NM_001011.4(RPS7):c.-19+1G>A	rs1064796859
NM_001011.4(RPS7):c.65_68del (p.Gly22fs)
NM_001022.4(RPS19):c.316del (p.Ala106fs)
NM_001022.4(RPS19):c.356+18G>C	rs61762294
NM_001029.5(RPS26):c.182-16_182-4del
NM_001029.5(RPS26):c.1A>G (p.Met1Val)	rs143951267
NM_001029.5(RPS26):c.3+1G>T
NM_001032.5(RPS29):c.63-6T>G	rs1594573747
NM_198535.3(ZNF699):c.175+1G>A	rs749115647

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