ClinVar Miner

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

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Total variants: 19
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HGVS dbSNP
NM_001029.5(RPS26):c.-130T>G
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.-25C>T
NM_001029.5(RPS26):c.-27C>T rs200831849
NM_001029.5(RPS26):c.-31C>G rs17118262
NM_001029.5(RPS26):c.-31C>T
NM_001029.5(RPS26):c.-33C>T rs372794158
NM_001029.5(RPS26):c.-35G>A rs188808121
NM_001029.5(RPS26):c.-3A>G rs181174349
NM_001029.5(RPS26):c.-80C>T rs886049687
NM_001029.5(RPS26):c.-9G>T
NM_001029.5(RPS26):c.291C>T (p.Pro97=)
NM_001029.5(RPS26):c.3+14C>T
NM_001029.5(RPS26):c.3+7C>T
NM_001029.5(RPS26):c.3+9T>A
NM_001029.5(RPS26):c.327T>A (p.Arg109=) rs56696262
NM_001029.5(RPS26):c.93C>T (p.Pro31=) rs760255764

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