ClinVar Miner

List of variants in gene PUF60 reported as pathogenic for 8q24.3 microdeletion syndrome

Included ClinVar conditions (1):
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Total variants: 30
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HGVS dbSNP gnomAD frequency
NM_078480.3(PUF60):c.1072_1073delinsTTGACCCTGGCCCAGCCCC (p.Leu364fs) rs1554642573
NM_078480.3(PUF60):c.1154_1166del (p.Pro385fs) rs2130223089
NM_078480.3(PUF60):c.1309C>T (p.Gln437Ter) rs1554642022
NM_078480.3(PUF60):c.1342C>T (p.Arg448Ter) rs1563819620
NM_078480.3(PUF60):c.1381-2A>G rs1057518681
NM_078480.3(PUF60):c.1448T>C (p.Val483Ala) rs1563818514
NM_078480.3(PUF60):c.1471G>A (p.Gly491Arg) rs1816336903
NM_078480.3(PUF60):c.1569dup (p.Glu524Ter) rs1816322210
NM_078480.3(PUF60):c.208-1G>A rs1229324113
NM_078480.3(PUF60):c.219del (p.Lys72_Tyr73insTer) rs1586590135
NM_078480.3(PUF60):c.271C>T (p.Gln91Ter) rs1464053660
NM_078480.3(PUF60):c.284_285del (p.Leu95fs) rs1817027997
NM_078480.3(PUF60):c.382_383del (p.Met128fs) rs2130258214
NM_078480.3(PUF60):c.389G>A (p.Arg130His) rs1554643584
NM_078480.3(PUF60):c.407_410del (p.Ile136fs) rs1563826453
NM_078480.3(PUF60):c.449_457del (p.Ala150_Phe152del) rs1131692232
NM_078480.3(PUF60):c.505C>T (p.His169Tyr) rs398123001
NM_078480.3(PUF60):c.510+1G>A rs1816618311
NM_078480.3(PUF60):c.541G>A (p.Glu181Lys) rs1085307135
NM_078480.3(PUF60):c.612_630del (p.Asn207fs) rs1816565452
NM_078480.3(PUF60):c.628C>T (p.Gln210Ter) rs1816565787
NM_078480.3(PUF60):c.636_640del (p.Gln212fs)
NM_078480.3(PUF60):c.672dup (p.Phe225fs) rs2130247180
NM_078480.3(PUF60):c.712_713del (p.Ser238fs) rs1816555365
NM_078480.3(PUF60):c.746_747insCACAC (p.Gly250fs) rs1816551992
NM_078480.3(PUF60):c.822C>G (p.Tyr274Ter)
NM_078480.3(PUF60):c.848_849del (p.Ala283fs) rs2130242336
NM_078480.3(PUF60):c.852_853del (p.Ser285fs)
NM_078480.3(PUF60):c.860dup (p.Met287fs) rs2130242101
NM_078480.3(PUF60):c.901A>T (p.Lys301Ter) rs1563823411

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