ClinVar Miner

List of variants reported as benign for Perlman syndrome by Illumina Laboratory Services, Illumina

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 16
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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.*13G>A rs200467865 0.00304
NM_152383.5(DIS3L2):c.*255C>T rs143054885 0.00130
NM_152383.5(DIS3L2):c.*77G>T rs77517611 0.00113
NM_152383.5(DIS3L2):c.*314A>T rs187723884

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