ClinVar Miner

List of variants in gene WDR19 studied for Senior-Loken syndrome 8

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Total variants: 39
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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.2129T>C (p.Leu710Ser) rs387906980 0.00003
NM_025132.4(WDR19):c.3722C>T (p.Pro1241Leu) rs576113399 0.00003
NM_025132.4(WDR19):c.3112C>T (p.Arg1038Ter) rs748174246 0.00002
NM_025132.4(WDR19):c.1477G>C (p.Asp493His) rs587777349 0.00001
NM_025132.4(WDR19):c.14T>C (p.Phe5Ser) rs1237494778 0.00001
NM_025132.4(WDR19):c.2909C>T (p.Ala970Val) rs771583357 0.00001
NM_025132.4(WDR19):c.3703G>A (p.Glu1235Lys) rs587777351 0.00001
NM_025132.4(WDR19):c.3875G>T (p.Cys1292Phe) rs796543493 0.00001
NM_025132.4(WDR19):c.1010C>T (p.Ser337Phe)
NM_025132.4(WDR19):c.1434C>G (p.Ile478Met) rs886039814
NM_025132.4(WDR19):c.1483G>T (p.Gly495Cys) rs1215108056
NM_025132.4(WDR19):c.203T>A (p.Val68Asp) rs786204852
NM_025132.4(WDR19):c.2363+3_2363+6del
NM_025132.4(WDR19):c.2741C>A (p.Ala914Asp) rs766616967
NM_025132.4(WDR19):c.2897A>G (p.Asp966Gly)
NM_025132.4(WDR19):c.407-2A>G rs374400438
NM_025132.4(WDR19):c.641dup (p.Leu214fs) rs587777348

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