ClinVar Miner

List of variants reported as likely pathogenic for Perlman syndrome

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
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Total variants: 44
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HGVS dbSNP gnomAD frequency
NM_152383.5(DIS3L2):c.1096G>T (p.Glu366Ter) rs760123810 0.00001
NM_152383.5(DIS3L2):c.1162C>T (p.Arg388Ter) rs766629924 0.00001
NM_152383.5(DIS3L2):c.127C>T (p.Arg43Ter) rs762653147 0.00001
NM_152383.5(DIS3L2):c.2170C>T (p.Arg724Ter) rs773260717 0.00001
NM_152383.5(DIS3L2):c.601+1G>A rs747497458 0.00001
NC_000002.11:g.(?_233001172)_(233001439_?)dup
NC_000002.11:g.(?_233028159)_(233075125_?)dup
NC_000002.11:g.(?_233075026)_(233075125_?)dup
NC_000002.11:g.(?_233164740)_(233164839_?)dup
NC_000002.12:g.(?_232329803)_(232336630_?)del
NC_000002.12:g.(?_232329803)_(232336640_?)del
NM_152383.5(DIS3L2):c.1117del (p.Asp373fs)
NM_152383.5(DIS3L2):c.1125-2A>G rs2106217873
NM_152383.5(DIS3L2):c.1178_1179insAAGCCACT (p.Leu394fs)
NM_152383.5(DIS3L2):c.1318-11_1318-2del
NM_152383.5(DIS3L2):c.1318-1G>A
NM_152383.5(DIS3L2):c.1425+1G>A rs2106264934
NM_152383.5(DIS3L2):c.1740-1G>C rs1695680859
NM_152383.5(DIS3L2):c.1923+1G>A rs2106348255
NM_152383.5(DIS3L2):c.1924-1G>C rs1201265438
NM_152383.5(DIS3L2):c.1924-1G>T rs1201265438
NM_152383.5(DIS3L2):c.2010_2010+1delinsAT
NM_152383.5(DIS3L2):c.2011-1G>C rs1060503037
NM_152383.5(DIS3L2):c.210+1G>C
NM_152383.5(DIS3L2):c.210+1G>T
NM_152383.5(DIS3L2):c.2289+1G>A rs2106354449
NM_152383.5(DIS3L2):c.2289+2T>G
NM_152383.5(DIS3L2):c.2302del (p.Leu768fs)
NM_152383.5(DIS3L2):c.2335_2394+30del rs2106354681
NM_152383.5(DIS3L2):c.2394+1G>A rs1214723183
NM_152383.5(DIS3L2):c.2394+1G>T rs1214723183
NM_152383.5(DIS3L2):c.264+1G>A
NM_152383.5(DIS3L2):c.265-1G>A
NM_152383.5(DIS3L2):c.325dup (p.Asp109fs) rs1441475659
NM_152383.5(DIS3L2):c.426del (p.Glu143fs)
NM_152383.5(DIS3L2):c.457C>T (p.Gln153Ter)
NM_152383.5(DIS3L2):c.48del (p.Arg17fs) rs2106220804
NM_152383.5(DIS3L2):c.502del (p.Ala168fs)
NM_152383.5(DIS3L2):c.53del (p.Gly18fs) rs2106221493
NM_152383.5(DIS3L2):c.645del (p.Cys216fs) rs1328362747
NM_152383.5(DIS3L2):c.702+1G>A rs2106350184
NM_152383.5(DIS3L2):c.733C>T (p.Arg245Ter) rs199648534
NM_152383.5(DIS3L2):c.943del (p.Ala315fs)
NM_152383.5(DIS3L2):c.994G>T (p.Glu332Ter)

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