ClinVar Miner

List of variants in gene RBBP8 studied for Jawad syndrome

Included ClinVar conditions (2):
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Total variants: 20
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HGVS dbSNP gnomAD frequency
NM_002894.3(RBBP8):c.2115G>A (p.Lys705=) rs17852769 0.18089
NM_002894.3(RBBP8):c.736C>G (p.Pro246Ala) rs34372414 0.00661
NM_002894.3(RBBP8):c.2146G>A (p.Glu716Lys) rs148713374 0.00072
NM_002894.3(RBBP8):c.2516G>A (p.Arg839Gln) rs140196819 0.00051
NM_002894.3(RBBP8):c.1928A>C (p.Gln643Pro) rs369234115 0.00021
NM_002894.3(RBBP8):c.927A>G (p.Ser309=) rs370136343 0.00009
NM_002894.3(RBBP8):c.298C>T (p.Arg100Trp) rs373804633 0.00007
NM_002894.3(RBBP8):c.2024C>T (p.Thr675Ile) rs186820592 0.00006
NM_002894.3(RBBP8):c.293A>G (p.His98Arg) rs146649234 0.00004
NM_002894.3(RBBP8):c.2435C>T (p.Thr812Met) rs778024948 0.00002
NM_002894.3(RBBP8):c.1223_1228del (p.Ile408_Asn409del) rs757747543
NM_002894.3(RBBP8):c.1457_1458del (p.Val486fs) rs1915827870
NM_002894.3(RBBP8):c.1808_1809del (p.Ile603fs) rs587776884
NM_002894.3(RBBP8):c.1812G>T (p.Lys604Asn)
NM_002894.3(RBBP8):c.1939+20del rs757282598
NM_002894.3(RBBP8):c.2048T>G (p.Leu683Ter) rs2045882525
NM_002894.3(RBBP8):c.2287+1G>A rs2045952037
NM_002894.3(RBBP8):c.317_318del (p.Glu105_Phe106insTer) rs1913849770
NM_002894.3(RBBP8):c.428+37T>C rs2336916
NM_002894.3(RBBP8):c.605-48TCA[2] rs3052770

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