ClinVar Miner

List of variants in gene RPS7 reported as benign for Diamond-Blackfan anemia

Included ClinVar conditions (23):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 13
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HGVS dbSNP gnomAD frequency
NM_001011.4(RPS7):c.508-12C>A rs2071639 0.12923
NM_001011.4(RPS7):c.-47G>T rs11558965 0.05356
NM_001011.4(RPS7):c.-36A>C rs17552296 0.00303
NM_001011.4(RPS7):c.*31C>T rs191506876 0.00021
NM_001011.4(RPS7):c.435C>T (p.Arg145=) rs142207795 0.00009
NM_001011.4(RPS7):c.276C>G (p.Val92=) rs61730448 0.00008
NM_001011.4(RPS7):c.459C>G (p.Leu153=) rs777622518 0.00003
NM_001011.4(RPS7):c.508-16C>A rs539208774 0.00003
NM_001011.4(RPS7):c.99C>T (p.Asn33=) rs61732234 0.00002
NM_001011.4(RPS7):c.-19+13C>T rs530845583
NM_001011.4(RPS7):c.148-7del rs1238368020
NM_001011.4(RPS7):c.357-16dup rs1314041858
NM_001011.4(RPS7):c.357-3dup rs140914434

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