List of variants in gene combination DIPK1A, RPL5 reported as benign for Diamond-Blackfan anemia 1

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 14

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HGVS	dbSNP	gnomAD frequency
NM_000969.5(RPL5):c.165G>A (p.Val55=)	rs58263806	0.02253
NM_000969.5(RPL5):c.629A>G (p.Tyr210Cys)	rs11540832	0.00574
NM_000969.5(RPL5):c.258T>C (p.Tyr86=)	rs113792800	0.00472
NM_000969.5(RPL5):c.325-4A>G	rs183825489	0.00267
NM_000969.5(RPL5):c.325-11T>G	rs145058455	0.00169
NM_000969.5(RPL5):c.423C>T (p.Ala141=)	rs138277390	0.00045
NM_000969.5(RPL5):c.324+14G>T	rs200772479	0.00030
NM_000969.5(RPL5):c.408T>C (p.Asp136=)	rs142297836	0.00024
NM_000969.5(RPL5):c.795-9C>A	rs748765097	0.00001
NM_000969.5(RPL5):c.846A>G (p.Gln282=)	rs376641112	0.00001
NM_000969.5(RPL5):c.74-8dup
NM_000969.5(RPL5):c.794+16_794+19del	rs747509136
NM_000969.5(RPL5):c.794+17_794+19del	rs747509136
NM_000969.5(RPL5):c.794+19dup	rs747509136

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