ClinVar Miner

List of variants reported as likely benign for Polycystic kidney disease 2

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Total variants: 35
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HGVS dbSNP gnomAD frequency
NM_000297.4(PKD2):c.*837C>G rs77638442 0.01121
NM_000297.4(PKD2):c.1359A>G (p.Pro453=) rs17013754 0.00985
NM_000297.4(PKD2):c.*1120C>T rs116540621 0.00805
NM_000297.4(PKD2):c.2134T>C (p.Leu712=) rs73841280 0.00563
NM_000297.4(PKD2):c.570G>T (p.Ala190=) rs541702320 0.00554
NM_000297.4(PKD2):c.2420G>A (p.Arg807Gln) rs147654263 0.00312
NM_000297.4(PKD2):c.2411G>A (p.Ser804Asn) rs145343957 0.00280
NM_000297.4(PKD2):c.*239T>G rs147418332 0.00237
NM_000297.4(PKD2):c.*384T>C rs192342290 0.00237
NM_000297.4(PKD2):c.*1397G>A rs563444129 0.00102
NM_000297.4(PKD2):c.1830G>A (p.Ala610=) rs144968710 0.00091
NM_000297.4(PKD2):c.1354A>G (p.Ile452Val) rs1801612 0.00065
NM_000297.4(PKD2):c.1617G>C (p.Leu539=) rs145297759 0.00044
NM_000297.4(PKD2):c.*604G>A rs377022187 0.00037
NM_000297.4(PKD2):c.*1997T>C rs375324508 0.00036
NM_000297.4(PKD2):c.*794C>A rs370387859 0.00036
NM_000297.4(PKD2):c.1082G>A (p.Arg361Gln) rs753359659 0.00036
NM_000297.4(PKD2):c.1546G>T (p.Val516Leu) rs143581690 0.00028
NM_000297.4(PKD2):c.2583C>T (p.Asp861=) rs369520452 0.00014
NM_000297.4(PKD2):c.1092C>T (p.Thr364=) rs149257723 0.00011
NM_000297.4(PKD2):c.2523-7C>T rs199528409 0.00011
NM_000297.4(PKD2):c.2391A>C (p.Pro797=) rs556777891 0.00009
NM_000297.4(PKD2):c.1717-7C>T rs201267638 0.00008
NM_000297.4(PKD2):c.2814A>G (p.Gln938=) rs573469832 0.00008
NM_000297.4(PKD2):c.2499C>T (p.Gly833=) rs180709531 0.00007
NM_000297.4(PKD2):c.2118+19C>T rs777790980 0.00003
NM_000297.4(PKD2):c.1153A>G (p.Thr385Ala) rs1331921848 0.00001
NM_000297.4(PKD2):c.1548+9G>C rs376901684 0.00001
NM_000297.4(PKD2):c.2139C>T (p.Val713=) rs200707583 0.00001
NM_000297.4(PKD2):c.2460C>T (p.Ser820=) rs572822238 0.00001
NM_000297.4(PKD2):c.783C>T (p.Pro261=) rs766343471 0.00001
NM_000297.4(PKD2):c.-82G>C rs529779778
NM_000297.4(PKD2):c.1146C>A (p.Ile382=) rs1351905972
NM_000297.4(PKD2):c.1617G>A (p.Leu539=) rs145297759
NM_000297.4(PKD2):c.290AGG[7] (p.Glu102dup) rs750077647

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