ClinVar Miner

List of variants studied for Jawad syndrome by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (2):
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Total variants: 9
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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 0.00064
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.298C>T (p.Arg100Trp) rs373804633 0.00007
NM_002894.3(RBBP8):c.293A>G (p.His98Arg) rs146649234 0.00004
NM_002894.3(RBBP8):c.1243T>A (p.Ser415Thr) rs769800397 0.00003
NM_002894.3(RBBP8):c.1939+20del rs757282598
NM_002894.3(RBBP8):c.2329G>A (p.Val777Met)

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