ClinVar Miner

List of variants studied for Catifa syndrome

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Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_020829.4(RIC1):c.441-10C>G rs10758700 0.38835
NM_020829.4(RIC1):c.1993-8A>C rs1543526 0.33266
NM_020829.4(RIC1):c.4251T>G (p.Thr1417=) rs3739648 0.26477
NM_020829.4(RIC1):c.1367G>A (p.Arg456Gln)
NM_020829.4(RIC1):c.174_186delinsAGGC (p.Pro59_Ser62delinsGly)
NM_020829.4(RIC1):c.2333C>T (p.Pro778Leu)
NM_020829.4(RIC1):c.2475G>T (p.Gln825His)
NM_020829.4(RIC1):c.3764A>T (p.Lys1255Ile)
NM_020829.4(RIC1):c.3794G>C (p.Arg1265Pro) rs763515150
NM_020829.4(RIC1):c.812+4T>C rs7850299
NM_020829.4(RIC1):c.826G>A (p.Val276Ile)

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