ClinVar Miner

List of variants in gene WDR19 reported as likely pathogenic

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Total variants: 58
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HGVS dbSNP gnomAD frequency
NM_025132.4(WDR19):c.3533G>A (p.Arg1178Gln) rs79436363 0.00015
NM_025132.4(WDR19):c.880G>A (p.Gly294Arg) rs377160857 0.00006
NM_025132.4(WDR19):c.3565+1G>A rs587777352 0.00004
NM_025132.4(WDR19):c.641T>A (p.Leu214Ter) rs751290509 0.00004
NM_025132.4(WDR19):c.781dup (p.Thr261fs) rs748656635 0.00004
NM_025132.4(WDR19):c.817A>G (p.Asn273Asp) rs375644378 0.00004
NM_025132.4(WDR19):c.2129T>C (p.Leu710Ser) rs387906980 0.00003
NM_025132.4(WDR19):c.1477G>C (p.Asp493His) rs587777349 0.00001
NM_025132.4(WDR19):c.1483G>C (p.Gly495Arg) rs1215108056 0.00001
NM_025132.4(WDR19):c.14T>C (p.Phe5Ser) rs1237494778 0.00001
NM_025132.4(WDR19):c.1623C>G (p.Tyr541Ter) rs771148519 0.00001
NM_025132.4(WDR19):c.1982+2T>C rs780847651 0.00001
NM_025132.4(WDR19):c.2363+1G>A rs886041912 0.00001
NM_025132.4(WDR19):c.2563C>T (p.Gln855Ter) rs772599282 0.00001
NM_025132.4(WDR19):c.3262-2A>G rs753291151 0.00001
NM_025132.4(WDR19):c.3703G>A (p.Glu1235Lys) rs587777351 0.00001
NM_025132.4(WDR19):c.890+1G>T rs1338996032 0.00001
NM_025132.4(WDR19):c.1015C>T (p.Gln339Ter)
NM_025132.4(WDR19):c.1357-2A>T rs1221444922
NM_025132.4(WDR19):c.142dup (p.Arg48fs) rs1577823005
NM_025132.4(WDR19):c.1434C>G (p.Ile478Met) rs886039814
NM_025132.4(WDR19):c.1442A>G (p.His481Arg) rs1729264976
NM_025132.4(WDR19):c.1479+2T>C rs756329385
NM_025132.4(WDR19):c.1559T>C (p.Ile520Thr) rs1730093487
NM_025132.4(WDR19):c.1778-1G>A rs1730515128
NM_025132.4(WDR19):c.1778-2A>C rs1730514795
NM_025132.4(WDR19):c.1983-2A>C
NM_025132.4(WDR19):c.1997G>A (p.Trp666Ter) rs1577943445
NM_025132.4(WDR19):c.2363+3_2363+6del
NM_025132.4(WDR19):c.2364-2A>G
NM_025132.4(WDR19):c.2485C>T (p.Arg829Ter) rs775181779
NM_025132.4(WDR19):c.2601_2602dup (p.Tyr868fs) rs1421636172
NM_025132.4(WDR19):c.2646-2A>G rs890152763
NM_025132.4(WDR19):c.2741C>A (p.Ala914Asp) rs766616967
NM_025132.4(WDR19):c.2777G>T (p.Ser926Ile) rs751386429
NM_025132.4(WDR19):c.2786G>C (p.Arg929Pro) rs201685269
NM_025132.4(WDR19):c.2830_2866del (p.Ile944fs) rs1560541088
NM_025132.4(WDR19):c.2887C>T (p.Gln963Ter)
NM_025132.4(WDR19):c.2891T>C (p.Leu964Pro) rs1733504639
NM_025132.4(WDR19):c.3184-2A>G rs1020915921
NM_025132.4(WDR19):c.3304_3358+36del
NM_025132.4(WDR19):c.3319C>T (p.Gln1107Ter) rs1401145684
NM_025132.4(WDR19):c.3483+1G>A
NM_025132.4(WDR19):c.3483+1G>C rs2109497413
NM_025132.4(WDR19):c.3484-2A>C rs1553918403
NM_025132.4(WDR19):c.3716+1G>A rs1191056931
NM_025132.4(WDR19):c.3800G>A (p.Cys1267Tyr) rs745603321
NM_025132.4(WDR19):c.441G>A (p.Trp147Ter) rs1273811425
NM_025132.4(WDR19):c.475G>A (p.Asp159Asn) rs1451698951
NM_025132.4(WDR19):c.617T>C (p.Leu206Pro) rs1064796986
NM_025132.4(WDR19):c.716+1G>C
NM_025132.4(WDR19):c.716+2del rs1727827349
NM_025132.4(WDR19):c.717-1G>C rs2109300967
NM_025132.4(WDR19):c.728G>T (p.Gly243Val) rs776687469
NM_025132.4(WDR19):c.742G>A (p.Gly248Ser) rs1064796985
NM_025132.4(WDR19):c.746T>C (p.Phe249Ser) rs1553905326
NM_025132.4(WDR19):c.891-1_891delinsAT rs2109322692
NM_025132.4(WDR19):c.961+2T>C rs1728876351

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