ClinVar Miner

List of variants reported as likely pathogenic for Senior-Loken syndrome by Invitae

Included ClinVar conditions (24):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 67
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HGVS dbSNP gnomAD frequency
NM_006642.5(SDCCAG8):c.1985+1G>T rs752046196 0.00003
NM_006642.5(SDCCAG8):c.220+2T>C rs757796329 0.00003
NM_006642.5(SDCCAG8):c.1745-2A>G rs1442457872 0.00002
NM_006642.5(SDCCAG8):c.307-1G>A rs1460888769 0.00001
NM_006642.5(SDCCAG8):c.546+1G>A rs756907665 0.00001
NM_006642.5(SDCCAG8):c.675+1G>A rs1022080658 0.00001
NM_014956.5(CEP164):c.1724+1G>A rs1489883516 0.00001
NM_014956.5(CEP164):c.2066+1G>A rs1279037770 0.00001
NM_014956.5(CEP164):c.2493+1G>A rs778819060 0.00001
NM_014956.5(CEP164):c.2760+1G>T rs1269878493 0.00001
NM_014956.5(CEP164):c.277C>T (p.Arg93Trp) rs387907310 0.00001
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
NC_000001.10:g.(?_243652316)_(243652442_?)dup
NC_000011.9:g.(?_117253375)_(117257939_?)del
NM_006642.5(SDCCAG8):c.1068+1G>A
NM_006642.5(SDCCAG8):c.1356+1G>C rs2147782314
NM_006642.5(SDCCAG8):c.1617-1G>A
NM_006642.5(SDCCAG8):c.1853+2T>A
NM_006642.5(SDCCAG8):c.221-1G>A rs2068036602
NM_006642.5(SDCCAG8):c.420+1G>C
NM_006642.5(SDCCAG8):c.547-1G>A rs2070433656
NM_014956.5(CEP164):c.1233+1G>A
NM_014956.5(CEP164):c.1234-2A>T
NM_014956.5(CEP164):c.1318-13_1319del
NM_014956.5(CEP164):c.1409+2T>C
NM_014956.5(CEP164):c.1934+1G>A rs951827564
NM_014956.5(CEP164):c.194+2T>C
NM_014956.5(CEP164):c.2283+1G>C
NM_014956.5(CEP164):c.2283+2T>C rs1459158279
NM_014956.5(CEP164):c.2284-1G>A rs1391874809
NM_014956.5(CEP164):c.2361+1G>A
NM_014956.5(CEP164):c.2362-1G>T
NM_014956.5(CEP164):c.2616+1G>A rs2136378484
NM_014956.5(CEP164):c.2914-1G>C
NM_014956.5(CEP164):c.3216+1del
NM_014956.5(CEP164):c.3502-2A>G
NM_014956.5(CEP164):c.3609+1G>T
NM_014956.5(CEP164):c.3748+2T>C
NM_014956.5(CEP164):c.3749-2A>G rs1482717760
NM_014956.5(CEP164):c.4096+1G>C
NM_014956.5(CEP164):c.552+1G>C rs2041038603
NM_014956.5(CEP164):c.553-1G>A rs2041099865
NM_014956.5(CEP164):c.687+1G>A
NM_014956.5(CEP164):c.688-2A>C rs370034077
NM_014956.5(CEP164):c.765+1G>A rs2041251614
NM_014956.5(CEP164):c.766-2A>G rs2135912935
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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