ClinVar Miner

List of variants in gene WDR19 reported as pathogenic for asphyxiating thoracic dystrophy 5

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 55
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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.1250-1G>A rs1327583103 0.00009
NM_025132.4(WDR19):c.880G>A (p.Gly294Arg) rs377160857 0.00006
NM_025132.4(WDR19):c.1122_1123insT (p.Pro375fs) rs1353172956 0.00004
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.2129T>C (p.Leu710Ser) rs387906980 0.00003
NM_025132.4(WDR19):c.3112C>T (p.Arg1038Ter) rs748174246 0.00002
NM_025132.4(WDR19):c.1623C>G (p.Tyr541Ter) rs771148519 0.00001
NM_025132.4(WDR19):c.275T>G (p.Leu92Ter) rs926405916 0.00001
NM_025132.4(WDR19):c.3703G>A (p.Glu1235Lys) rs587777351 0.00001
NM_025132.4(WDR19):c.388C>T (p.Arg130Ter) rs778039192 0.00001
NC_000004.11:g.(?_39184178)_(39184203_?)del
NC_000004.11:g.(?_39216201)_(39218880_?)del
NC_000004.11:g.(?_39218734)_(39219745_?)del
NC_000004.11:g.(?_39257448)_(39257600_?)del
NM_025132.4(WDR19):c.1080del (p.Ile361fs) rs1553907440
NM_025132.4(WDR19):c.108T>G (p.Tyr36Ter) rs1577822861
NM_025132.4(WDR19):c.142dup (p.Arg48fs) rs1577823005
NM_025132.4(WDR19):c.1442A>G (p.His481Arg) rs1729264976
NM_025132.4(WDR19):c.1534C>T (p.Arg512Ter)
NM_025132.4(WDR19):c.1777+1del
NM_025132.4(WDR19):c.1867_1868del (p.Gln623fs)
NM_025132.4(WDR19):c.1911_1914del (p.Phe637fs) rs1730535406
NM_025132.4(WDR19):c.20T>C (p.Leu7Pro) rs387906982
NM_025132.4(WDR19):c.2138_2139del (p.Ile713fs)
NM_025132.4(WDR19):c.2276G>A (p.Trp759Ter)
NM_025132.4(WDR19):c.2277G>A (p.Trp759Ter)
NM_025132.4(WDR19):c.2337del (p.Glu780fs)
NM_025132.4(WDR19):c.234C>A (p.Cys78Ter) rs1232301082
NM_025132.4(WDR19):c.2351_2361del (p.Gln784fs) rs2109377653
NM_025132.4(WDR19):c.2481dup (p.Arg828fs) rs2109405851
NM_025132.4(WDR19):c.2485C>T (p.Arg829Ter) rs775181779
NM_025132.4(WDR19):c.2589T>G (p.Tyr863Ter)
NM_025132.4(WDR19):c.2601_2602dup (p.Tyr868fs) rs1421636172
NM_025132.4(WDR19):c.2741C>A (p.Ala914Asp) rs766616967
NM_025132.4(WDR19):c.2771G>A (p.Trp924Ter)
NM_025132.4(WDR19):c.2772G>A (p.Trp924Ter)
NM_025132.4(WDR19):c.2797del (p.Asp933fs)
NM_025132.4(WDR19):c.2972del (p.Asn991fs)
NM_025132.4(WDR19):c.3184-2A>C rs1020915921
NM_025132.4(WDR19):c.3307C>T (p.Arg1103Ter) rs387906981
NM_025132.4(WDR19):c.3319C>T (p.Gln1107Ter) rs1401145684
NM_025132.4(WDR19):c.3457del (p.Ile1153fs)
NM_025132.4(WDR19):c.3868_3871del (p.Thr1290fs) rs747165335
NM_025132.4(WDR19):c.422_423del (p.Arg141fs)
NM_025132.4(WDR19):c.441G>A (p.Trp147Ter) rs1273811425
NM_025132.4(WDR19):c.526C>T (p.Gln176Ter)
NM_025132.4(WDR19):c.632dup (p.Leu211fs) rs2109299952
NM_025132.4(WDR19):c.641dup (p.Leu214fs) rs587777348
NM_025132.4(WDR19):c.697_701dup (p.Val235fs)
NM_025132.4(WDR19):c.749C>G (p.Ser250Ter)
NM_025132.4(WDR19):c.812del (p.Ala271fs)
NM_025132.4(WDR19):c.826_827del (p.Lys275_Asp276insTer)

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