ClinVar Miner

List of variants reported as pathogenic for Perlman syndrome by Invitae

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Total variants: 75
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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.1836del (p.Gln614fs) rs1559216207 0.00001
NM_152383.5(DIS3L2):c.1983del (p.Thr662fs) rs1395962146 0.00001
NM_152383.5(DIS3L2):c.2170C>T (p.Arg724Ter) rs773260717 0.00001
NM_152383.5(DIS3L2):c.274C>T (p.Arg92Ter) rs748001988 0.00001
NC_000002.11:g.(?_232879638)_(232894800_?)del
NC_000002.11:g.(?_232879638)_(232952441_?)del
NC_000002.11:g.(?_232952187)_(232952441_?)del
NC_000002.11:g.(?_232952187)_(233028352_?)del
NC_000002.11:g.(?_232952187)_(233201340_?)del
NC_000002.11:g.(?_232995309)_(233028362_?)del
NC_000002.11:g.(?_233001172)_(233075125_?)del
NC_000002.11:g.(?_233028159)_(233028352_?)del
NC_000002.11:g.(?_233075026)_(233075125_?)del
NC_000002.11:g.(?_233075026)_(233128160_?)del
NC_000002.11:g.(?_233103223)_(233103375_?)del
NC_000002.11:g.(?_233103233)_(233128160_?)del
NC_000002.12:g.(?_232130609)_(232130729_?)del
NC_000002.12:g.(?_232130609)_(232136729_?)del
NC_000002.12:g.(?_232130619)_(232130719_?)del
NC_000002.12:g.(?_232136462)_(232136729_?)del
NC_000002.12:g.(?_232249229)_(232300129_?)del
NM_152383.4(DIS3L2):c.951-?_1124+?del
NM_152383.5(DIS3L2):c.1133_1134del (p.Cys378fs)
NM_152383.5(DIS3L2):c.1170del (p.Asp391fs)
NM_152383.5(DIS3L2):c.1326dup (p.Met443fs)
NM_152383.5(DIS3L2):c.1403G>A (p.Trp468Ter) rs2106264887
NM_152383.5(DIS3L2):c.1545del (p.Ile516fs)
NM_152383.5(DIS3L2):c.1545dup (p.Ile516fs) rs2106281153
NM_152383.5(DIS3L2):c.1556_1565del (p.Glu519fs) rs1574980061
NM_152383.5(DIS3L2):c.1570G>T (p.Glu524Ter) rs201308521
NM_152383.5(DIS3L2):c.1573del (p.Val525fs) rs1693769972
NM_152383.5(DIS3L2):c.1610_1617delinsG (p.Lys537fs) rs1574980125
NM_152383.5(DIS3L2):c.1611_1617del (p.Lys537fs)
NM_152383.5(DIS3L2):c.1787dup (p.Ile597fs) rs1695682618
NM_152383.5(DIS3L2):c.1810C>T (p.Gln604Ter) rs1695684357
NM_152383.5(DIS3L2):c.1835dup (p.Pro613fs)
NM_152383.5(DIS3L2):c.1859_1866del (p.Asp620fs) rs2106348112
NM_152383.5(DIS3L2):c.1879_1882del (p.Gln627fs) rs2106348160
NM_152383.5(DIS3L2):c.2041C>T (p.Gln681Ter) rs1695848013
NM_152383.5(DIS3L2):c.2088C>G (p.Tyr696Ter) rs2106353572
NM_152383.5(DIS3L2):c.2088del (p.Leu695_Tyr696insTer) rs1695851413
NM_152383.5(DIS3L2):c.209A>G (p.Gln70Arg) rs376019404
NM_152383.5(DIS3L2):c.2219del (p.Asn740fs) rs2106354296
NM_152383.5(DIS3L2):c.2270del (p.Phe757fs) rs878855224
NM_152383.5(DIS3L2):c.2302del (p.Leu768fs)
NM_152383.5(DIS3L2):c.259del (p.Ser87fs)
NM_152383.5(DIS3L2):c.264+1del rs2106232915
NM_152383.5(DIS3L2):c.285dup (p.Ile96fs) rs2106239691
NM_152383.5(DIS3L2):c.325dup (p.Asp109fs) rs1441475659
NM_152383.5(DIS3L2):c.363G>A (p.Trp121Ter) rs2106239900
NM_152383.5(DIS3L2):c.367-2A>G
NM_152383.5(DIS3L2):c.375del (p.Lys125fs) rs2106309216
NM_152383.5(DIS3L2):c.430G>T (p.Glu144Ter)
NM_152383.5(DIS3L2):c.48del (p.Arg17fs) rs2106220804
NM_152383.5(DIS3L2):c.505C>T (p.Gln169Ter) rs1574864832
NM_152383.5(DIS3L2):c.541dup (p.Ile181fs) rs1696704929
NM_152383.5(DIS3L2):c.580_581del (p.Val195fs) rs1696706093
NM_152383.5(DIS3L2):c.581C>G (p.Ser194Ter) rs772157269
NM_152383.5(DIS3L2):c.645del (p.Cys216fs) rs1328362747
NM_152383.5(DIS3L2):c.695C>G (p.Ser232Ter) rs747734015
NM_152383.5(DIS3L2):c.733C>T (p.Arg245Ter) rs199648534
NM_152383.5(DIS3L2):c.778_797del (p.Glu260fs)
NM_152383.5(DIS3L2):c.787del (p.Arg263fs)
NM_152383.5(DIS3L2):c.796_799dup (p.Leu267fs)
NM_152383.5(DIS3L2):c.799_800del (p.Leu267fs) rs1553610371
NM_152383.5(DIS3L2):c.820C>T (p.Arg274Ter) rs781163337
NM_152383.5(DIS3L2):c.869del (p.Val290fs)
NM_152383.5(DIS3L2):c.86del (p.Gly29fs) rs2106221588
NM_152383.5(DIS3L2):c.906dup (p.Cys303fs)
NM_152383.5(DIS3L2):c.952C>T (p.Gln318Ter)
NM_152383.5(DIS3L2):c.957_960del (p.Ala320fs)
NM_152383.5(DIS3L2):c.973C>T (p.Gln325Ter) rs1209057640

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