ClinVar Miner

List of variants reported as uncertain significance for Perlman syndrome by Sema4, Sema4

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Total variants: 24
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HGVS dbSNP gnomAD frequency
NM_152383.5(DIS3L2):c.1447C>G (p.Arg483Gly) rs186865544 0.00073
NM_152383.5(DIS3L2):c.1722G>T (p.Glu574Asp) rs191608083 0.00041
NM_152383.5(DIS3L2):c.2329A>G (p.Ile777Val) rs2697798 0.00013
NM_152383.5(DIS3L2):c.1203C>T (p.Asp401=) rs370165461 0.00011
NM_152383.5(DIS3L2):c.108G>A (p.Lys36=) rs371477071 0.00010
NM_152383.5(DIS3L2):c.2162A>G (p.Tyr721Cys) rs371864654 0.00009
NM_152383.5(DIS3L2):c.1680G>A (p.Leu560=) rs377644356 0.00008
NM_152383.5(DIS3L2):c.2159-7T>C rs368022190 0.00005
NM_152383.5(DIS3L2):c.2060G>A (p.Arg687Gln) rs749596505 0.00004
NM_152383.5(DIS3L2):c.1609A>G (p.Lys537Glu) rs954655897 0.00003
NM_152383.5(DIS3L2):c.305G>C (p.Arg102Pro) rs372013568 0.00003
NM_001257281.2(DIS3L2):c.1733A>G (p.Gln578Arg) rs527819023 0.00001
NM_152383.5(DIS3L2):c.1648C>T (p.Arg550Cys) rs745989142 0.00001
NM_152383.5(DIS3L2):c.1684C>T (p.His562Tyr) rs748574652 0.00001
NM_152383.5(DIS3L2):c.173A>T (p.Asp58Val) rs981586581 0.00001
NM_152383.5(DIS3L2):c.1862T>C (p.Leu621Pro) rs772312903 0.00001
NM_152383.5(DIS3L2):c.547C>A (p.Gln183Lys) rs1173610603 0.00001
NM_152383.5(DIS3L2):c.666A>C (p.Arg222Ser) rs751721861 0.00001
NM_001257281.2(DIS3L2):c.1780G>C (p.Val594Leu) rs1048505602
NM_152383.5(DIS3L2):c.1529C>T (p.Ala510Val) rs377321022
NM_152383.5(DIS3L2):c.2149G>A (p.Ala717Thr) rs1695854707
NM_152383.5(DIS3L2):c.2395-13G>T rs374738789
NM_152383.5(DIS3L2):c.525AGA[3] (p.Glu176dup) rs1412955553
NM_152383.5(DIS3L2):c.929A>C (p.Glu310Ala) rs2106355637

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