ClinVar Miner

List of variants in gene WDR19 reported as likely pathogenic by Invitae

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Gene type:
ClinVar version:
Total variants: 22
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HGVS dbSNP gnomAD frequency
NM_025132.4(WDR19):c.1483G>C (p.Gly495Arg) rs1215108056 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.3262-2A>G rs753291151 0.00001
NM_025132.4(WDR19):c.890+1G>T rs1338996032 0.00001
NM_025132.4(WDR19):c.1357-2A>T rs1221444922
NM_025132.4(WDR19):c.1479+2T>C rs756329385
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.2364-2A>G
NM_025132.4(WDR19):c.2646-2A>G rs890152763
NM_025132.4(WDR19):c.3184-2A>G rs1020915921
NM_025132.4(WDR19):c.3304_3358+36del
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.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.891-1_891delinsAT rs2109322692
NM_025132.4(WDR19):c.961+2T>C rs1728876351

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