ClinVar Miner

List of variants studied for Nephronophthisis 13

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Total variants: 35
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HGVS dbSNP gnomAD frequency
NM_025132.4(WDR19):c.603+23C>T rs1451817 0.96807
NM_025132.4(WDR19):c.3716+46dup rs11096989 0.51347
NM_025132.4(WDR19):c.3841-27T>C rs12648082 0.51304
NM_025132.4(WDR19):c.3183+16A>G rs11096987 0.33074
NM_025132.4(WDR19):c.891C>T (p.Cys297=) rs2167494 0.30055
NM_025132.4(WDR19):c.852A>G (p.Ser284=) rs17584431 0.11533
NM_025132.4(WDR19):c.-9A>G rs60800612 0.05032
NM_025132.4(WDR19):c.910G>A (p.Val304Ile) rs75964850 0.03961
NM_025132.4(WDR19):c.3250G>A (p.Gly1084Ser) rs16995209 0.03548
NM_025132.4(WDR19):c.1357-10T>C rs16995189 0.01827
NM_025132.4(WDR19):c.1607G>C (p.Ser536Thr) rs115348383 0.00917
NM_025132.4(WDR19):c.2096G>A (p.Arg699Gln) rs138529452 0.00883
NM_025132.4(WDR19):c.1581C>A (p.Thr527=) rs114689848 0.00847
NM_025132.4(WDR19):c.3183+9G>A rs138318063 0.00248
NM_025132.4(WDR19):c.2142+12G>A rs149621476 0.00246
NM_025132.4(WDR19):c.1915A>G (p.Ser639Gly) rs150649460 0.00222
NM_025132.4(WDR19):c.3261+12G>A rs137960733 0.00076
NM_025132.4(WDR19):c.3416A>G (p.Gln1139Arg) rs75621037 0.00065
NM_025132.4(WDR19):c.1595T>C (p.Ile532Thr) rs749672769 0.00019
NM_025132.4(WDR19):c.3533G>A (p.Arg1178Gln) rs79436363 0.00015
NM_025132.4(WDR19):c.3027C>T (p.Asp1009=) rs181975379 0.00011
NM_025132.4(WDR19):c.3565+1G>A rs587777352 0.00004
NM_025132.4(WDR19):c.3722C>T (p.Pro1241Leu) rs576113399 0.00003
NM_025132.4(WDR19):c.1477G>C (p.Asp493His) rs587777349 0.00001
NM_025132.4(WDR19):c.3703G>A (p.Glu1235Lys) rs587777351 0.00001
GRCh37/hg19 4p14(chr4:39215680-39219295)
NM_025132.4(WDR19):c.1015C>T (p.Gln339Ter)
NM_025132.4(WDR19):c.1034T>G (p.Val345Gly) rs387906983
NM_025132.4(WDR19):c.1304T>G (p.Leu435Arg)
NM_025132.4(WDR19):c.1442A>G (p.His481Arg) rs1729264976
NM_025132.4(WDR19):c.1559T>C (p.Ile520Thr) rs1730093487
NM_025132.4(WDR19):c.1853T>C (p.Leu618Pro) rs2109358597
NM_025132.4(WDR19):c.2333C>G (p.Ser778Ter) rs1731221844
NM_025132.4(WDR19):c.3068dup (p.Tyr1023Ter) rs786205114
NM_025132.4(WDR19):c.682C>T (p.Gln228Ter) rs587777350

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