List of variants reported as likely pathogenic for Perlman syndrome by Invitae

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Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 26

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HGVS	dbSNP	gnomAD frequency
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.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.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.702+1G>A	rs2106350184

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