ClinVar Miner

List of variants in gene PRPF8 reported as likely benign by CeGaT Center for Human Genetics Tuebingen

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Gene type:
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Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_006445.4(PRPF8):c.4467C>T (p.Leu1489=) rs113849788 0.00488
NM_006445.4(PRPF8):c.1720-7A>G rs200224854 0.00039
NM_006445.4(PRPF8):c.3084T>C (p.Tyr1028=) rs75163090 0.00035
NM_006445.4(PRPF8):c.3633C>T (p.Asp1211=) rs148599874 0.00017
NM_006445.4(PRPF8):c.1221C>T (p.Ala407=) rs374996889 0.00006
NM_006445.4(PRPF8):c.3576C>T (p.Phe1192=) rs574003170 0.00002
NM_006445.4(PRPF8):c.1281C>A (p.Val427=) rs528335604
NM_006445.4(PRPF8):c.693A>G (p.Thr231=)

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