List of variants studied for Diamond-Blackfan anemia 10 by Illumina Laboratory Services, Illumina

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
		ClinVar version:

Total variants: 19

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HGVS	dbSNP	gnomAD frequency
NM_001029.5(RPS26):c.327T>A (p.Arg109=)	rs56696262	0.08189
NM_001029.5(RPS26):c.-25C>T	rs373484606	0.00150
NM_001029.5(RPS26):c.-35G>A	rs188808121	0.00139
NM_001029.5(RPS26):c.-3A>G	rs181174349	0.00056
NM_001029.5(RPS26):c.-33C>T	rs372794158	0.00006
NM_001029.5(RPS26):c.-80C>T	rs886049687	0.00001
NM_001029.5(RPS26):c.291C>T (p.Pro97=)	rs766621663	0.00001
NM_001029.5(RPS26):c.3+14C>T	rs763770729	0.00001
NM_001029.5(RPS26):c.93C>T (p.Pro31=)	rs760255764	0.00001
NM_001029.5(RPS26):c.-130T>G	rs1895889933
NM_001029.5(RPS26):c.-149G>T	rs886049686
NM_001029.5(RPS26):c.-209T>G	rs78108003
NM_001029.5(RPS26):c.-22C>G	rs1131017
NM_001029.5(RPS26):c.-27C>T	rs200831849
NM_001029.5(RPS26):c.-31C>G	rs17118262
NM_001029.5(RPS26):c.-31C>T	rs17118262
NM_001029.5(RPS26):c.-9G>T	rs372708429
NM_001029.5(RPS26):c.3+7C>T	rs115750993
NM_001029.5(RPS26):c.3+9T>A	rs545595719

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