ClinVar Miner

List of variants reported as benign for Perlman syndrome

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 58
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HGVS dbSNP gnomAD frequency
NM_152383.5(DIS3L2):c.2646A>G (p.Ser882=) rs3811578 0.13184
NM_152383.5(DIS3L2):c.456A>G (p.Gln152=) rs11887184 0.11049
NM_152383.5(DIS3L2):c.34C>T (p.Pro12Ser) rs723044 0.07683
NM_152383.5(DIS3L2):c.*103A>G rs113002914 0.04858
NM_152383.5(DIS3L2):c.2187C>T (p.Pro729=) rs75782436 0.04483
NM_152383.5(DIS3L2):c.1170C>T (p.Leu390=) rs17272089 0.01655
NM_152383.5(DIS3L2):c.1488T>C (p.His496=) rs72998118 0.01233
NM_152383.5(DIS3L2):c.426C>T (p.Pro142=) rs73001172 0.01166
NM_152383.5(DIS3L2):c.265-15C>A rs114804860 0.01092
NM_152383.5(DIS3L2):c.*113T>G rs116379923 0.01035
NM_152383.5(DIS3L2):c.1448G>A (p.Arg483Gln) rs148474013 0.00804
NM_152383.5(DIS3L2):c.*315G>C rs192296021 0.00582
NM_152383.5(DIS3L2):c.702+10T>G rs184764939 0.00343
NM_152383.5(DIS3L2):c.*13G>A rs200467865 0.00304
NM_152383.5(DIS3L2):c.2370C>T (p.Gly790=) rs199541622 0.00242
NM_152383.5(DIS3L2):c.1570G>A (p.Glu524Lys) rs201308521 0.00147
NM_152383.5(DIS3L2):c.*255C>T rs143054885 0.00130
NM_152383.5(DIS3L2):c.878C>A (p.Pro293His) rs187563594 0.00121
NM_152383.5(DIS3L2):c.*77G>T rs77517611 0.00113
NM_152383.5(DIS3L2):c.1447C>G (p.Arg483Gly) rs186865544 0.00073
NM_152383.5(DIS3L2):c.263C>T (p.Pro88Leu) rs202059499 0.00073
NM_152383.5(DIS3L2):c.1911A>C (p.Ala637=) rs563679311 0.00072
NM_152383.5(DIS3L2):c.410A>G (p.Tyr137Cys) rs201733073 0.00072
NM_152383.5(DIS3L2):c.662C>G (p.Thr221Arg) rs201020526 0.00052
NM_152383.5(DIS3L2):c.795C>T (p.Tyr265=) rs202042951 0.00047
NM_152383.5(DIS3L2):c.1722G>T (p.Glu574Asp) rs191608083 0.00041
NM_152383.5(DIS3L2):c.2010+20G>A rs374190053 0.00038
NM_152383.5(DIS3L2):c.951-20C>T rs201896227 0.00023
NM_152383.5(DIS3L2):c.1430T>G (p.Leu477Arg) rs201719374 0.00022
NM_152383.5(DIS3L2):c.1019A>G (p.Tyr340Cys) rs200027186 0.00021
NM_152383.5(DIS3L2):c.2409G>T (p.Arg803=) rs148106618 0.00014
NM_152383.5(DIS3L2):c.1597C>A (p.His533Asn) rs372209368 0.00013
NM_152383.5(DIS3L2):c.2329A>G (p.Ile777Val) rs2697798 0.00013
NM_152383.5(DIS3L2):c.1680G>A (p.Leu560=) rs377644356 0.00008
NM_152383.5(DIS3L2):c.2067C>T (p.Tyr689=) rs186340144 0.00007
NM_152383.5(DIS3L2):c.1839C>T (p.Pro613=) rs187677159 0.00006
NM_152383.5(DIS3L2):c.1300G>A (p.Val434Ile) rs758366698 0.00005
NM_152383.5(DIS3L2):c.2244C>T (p.Arg748=) rs745415974 0.00004
NM_152383.5(DIS3L2):c.1567G>A (p.Glu523Lys) rs745936781 0.00003
NM_152383.5(DIS3L2):c.1317+15C>G rs553691050 0.00001
NM_152383.5(DIS3L2):c.1585G>A (p.Val529Ile) rs773893129 0.00001
NM_152383.5(DIS3L2):c.871G>A (p.Ala291Thr) rs753115829 0.00001
NM_001257281.2(DIS3L2):c.1651_1652insGGG (p.Glu550_Ala551insGly) rs141560952
NM_152383.5(DIS3L2):c.*314A>T rs187723884
NM_152383.5(DIS3L2):c.1087A>G (p.Ile363Val) rs540563766
NM_152383.5(DIS3L2):c.1253C>T (p.Pro418Leu) rs752820747
NM_152383.5(DIS3L2):c.1659+18dup rs1693773339
NM_152383.5(DIS3L2):c.1782C>G (p.Ala594=) rs765160562
NM_152383.5(DIS3L2):c.211-10dup rs767260895
NM_152383.5(DIS3L2):c.2158+8del
NM_152383.5(DIS3L2):c.2159-10dup
NM_152383.5(DIS3L2):c.2496+11del
NM_152383.5(DIS3L2):c.2496+9C>T rs573355704
NM_152383.5(DIS3L2):c.265-10del
NM_152383.5(DIS3L2):c.52+9del rs2106220830
NM_152383.5(DIS3L2):c.703-3del
NM_152383.5(DIS3L2):c.730T>C (p.Ser244Pro) rs2106355288
NM_152383.5(DIS3L2):c.874C>A (p.Arg292=) rs182004457

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