ClinVar Miner

List of variants in gene DIS3L2 reported by Sema4, Sema4

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Total variants: 48
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HGVS dbSNP gnomAD frequency
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_001257281.2(DIS3L2):c.1587C>T (p.Asn529=) rs556095213 0.00121
NM_152383.5(DIS3L2):c.878C>A (p.Pro293His) rs187563594 0.00121
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.783G>A (p.Leu261=) rs367638559 0.00046
NM_152383.5(DIS3L2):c.1722G>T (p.Glu574Asp) rs191608083 0.00041
NM_152383.5(DIS3L2):c.1205-13C>T rs116327839 0.00038
NM_152383.5(DIS3L2):c.2367C>T (p.Tyr789=) rs770189518 0.00026
NM_152383.5(DIS3L2):c.963G>A (p.Lys321=) rs368863176 0.00014
NM_152383.5(DIS3L2):c.2329A>G (p.Ile777Val) rs2697798 0.00013
NM_152383.5(DIS3L2):c.351C>T (p.Pro117=) rs141249322 0.00013
NM_152383.5(DIS3L2):c.1203C>T (p.Asp401=) rs370165461 0.00011
NM_152383.5(DIS3L2):c.1308G>A (p.Leu436=) rs369878019 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.2067C>T (p.Tyr689=) rs186340144 0.00007
NM_001257281.2(DIS3L2):c.1644T>C (p.Asp548=) rs142369101 0.00006
NM_152383.5(DIS3L2):c.2298C>A (p.Gly766=) rs774880708 0.00006
NM_152383.5(DIS3L2):c.1158C>T (p.Thr386=) rs539081624 0.00005
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_152383.5(DIS3L2):c.1290G>A (p.Arg430=) rs779790592 0.00002
NM_152383.5(DIS3L2):c.309T>C (p.Asn103=) rs774819151 0.00002
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.2451G>A (p.Thr817=) rs1477139581 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.1651_1652insGGG (p.Glu550_Ala551insGly) rs141560952
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.1836G>A (p.Pro612=) rs202227137
NM_152383.5(DIS3L2):c.2149G>A (p.Ala717Thr) rs1695854707
NM_152383.5(DIS3L2):c.2395-13G>T rs374738789
NM_152383.5(DIS3L2):c.48del (p.Arg17fs) rs2106220804
NM_152383.5(DIS3L2):c.525AGA[3] (p.Glu176dup) rs1412955553
NM_152383.5(DIS3L2):c.874C>A (p.Arg292=) rs182004457
NM_152383.5(DIS3L2):c.929A>C (p.Glu310Ala) rs2106355637

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