ClinVar Miner

List of variants studied for Perlman syndrome by Fulgent Genetics, Fulgent Genetics

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Total variants: 21
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HGVS dbSNP gnomAD frequency
NM_152383.5(DIS3L2):c.1488T>C (p.His496=) rs72998118 0.01233
NM_152383.5(DIS3L2):c.1448G>A (p.Arg483Gln) rs148474013 0.00804
NM_152383.5(DIS3L2):c.1447C>G (p.Arg483Gly) rs186865544 0.00073
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.301G>T (p.Ala101Ser) rs199857926 0.00028
NM_152383.5(DIS3L2):c.1430T>G (p.Leu477Arg) rs201719374 0.00022
NM_152383.5(DIS3L2):c.-52A>G rs750961522 0.00016
NM_152383.5(DIS3L2):c.2329A>G (p.Ile777Val) rs2697798 0.00013
NM_152383.5(DIS3L2):c.1727G>A (p.Arg576His) rs200386096 0.00011
NM_152383.5(DIS3L2):c.2608A>G (p.Lys870Glu) rs775252407 0.00010
NM_152383.5(DIS3L2):c.1876G>A (p.Asp626Asn) rs374482102 0.00005
NM_152383.5(DIS3L2):c.2059C>T (p.Arg687Trp) rs372762400 0.00004
NM_152383.5(DIS3L2):c.2245G>A (p.Val749Met) rs755574750 0.00003
NM_152383.5(DIS3L2):c.1285G>A (p.Glu429Lys) rs750852437 0.00001
NM_152383.5(DIS3L2):c.1628G>A (p.Arg543His) rs1018058365 0.00001
NM_152383.5(DIS3L2):c.1774G>T (p.Ala592Ser) rs183714146 0.00001
NM_152383.5(DIS3L2):c.2210A>G (p.Asp737Gly) rs769764733 0.00001
NM_152383.5(DIS3L2):c.1087A>G (p.Ile363Val) rs540563766
NM_152383.5(DIS3L2):c.424C>A (p.Pro142Thr) rs878855227
NM_152383.5(DIS3L2):c.92C>T (p.Ser31Leu) rs901797759

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