ClinVar Miner

List of variants reported as likely benign for Bartsocas-Papas syndrome 1

Included ClinVar conditions (2):
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Total variants: 17
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HGVS dbSNP gnomAD frequency
NM_020639.3(RIPK4):c.*275T>C rs73369674 0.05243
NM_020639.3(RIPK4):c.*748A>G rs17113877 0.02775
NM_020639.3(RIPK4):c.*219T>G rs112292749 0.02518
NM_020639.3(RIPK4):c.*578C>A rs17113879 0.02132
NM_020639.3(RIPK4):c.*741G>A rs13050509 0.01754
NM_020639.3(RIPK4):c.2101C>T (p.Pro701Ser) rs35537517 0.00597
NM_020639.3(RIPK4):c.*715A>G rs77257940 0.00513
NM_020639.3(RIPK4):c.1884C>T (p.Ser628=) rs55812846 0.00492
NM_020639.3(RIPK4):c.1941G>A (p.Thr647=) rs116160025 0.00314
NM_020639.3(RIPK4):c.819G>A (p.Arg273=) rs139503982 0.00290
NM_020639.3(RIPK4):c.303G>A (p.Thr101=) rs2277792 0.00088
NM_020639.3(RIPK4):c.2323G>A (p.Ala775Thr) rs142879262 0.00038
NM_020639.3(RIPK4):c.2250G>A (p.Thr750=) rs201024640 0.00023
NM_020639.3(RIPK4):c.2325C>T (p.Ala775=) rs148947402 0.00014
NM_020639.3(RIPK4):c.1100G>T (p.Ser367Ile) rs201477363 0.00009
NM_020639.3(RIPK4):c.2296C>G (p.Leu766Val) rs200025631 0.00008
NM_020639.3(RIPK4):c.630G>A (p.Ala210=) rs2838114

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