ClinVar Miner

List of variants studied for Jawad syndrome; Seckel syndrome 2

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Total variants: 7
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HGVS dbSNP gnomAD frequency
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.1928A>C (p.Gln643Pro) rs369234115 0.00021
NM_002894.3(RBBP8):c.298C>T (p.Arg100Trp) rs373804633 0.00007
NM_002894.3(RBBP8):c.293A>G (p.His98Arg) rs146649234 0.00004
NM_002894.3(RBBP8):c.1939+20del rs757282598
NM_002894.3(RBBP8):c.2048T>G (p.Leu683Ter) rs2045882525

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