ClinVar Miner

List of variants in gene PUF60 reported as likely pathogenic for chromosomal disorder

Included ClinVar conditions (200):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 21
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HGVS dbSNP gnomAD frequency
NM_078480.3(PUF60):c.1381-2A>G rs1057518681
NM_078480.3(PUF60):c.1459T>C (p.Cys487Arg) rs2130205866
NM_078480.3(PUF60):c.1471G>A (p.Gly491Arg) rs1816336903
NM_078480.3(PUF60):c.1550T>G (p.Val517Gly) rs2130202692
NM_078480.3(PUF60):c.1558del (p.Ser520fs) rs1586555859
NM_078480.3(PUF60):c.274C>T (p.Gln92Ter) rs1210239952
NM_078480.3(PUF60):c.389G>A (p.Arg130His) rs1554643584
NM_078480.3(PUF60):c.389G>C (p.Arg130Pro) rs1554643584
NM_078480.3(PUF60):c.436C>T (p.Arg146Cys) rs2130257405
NM_078480.3(PUF60):c.449_457del (p.Ala150_Phe152del) rs1131692232
NM_078480.3(PUF60):c.464del (p.Ile155fs) rs1816624373
NM_078480.3(PUF60):c.472del (p.Ile158fs) rs2130256693
NM_078480.3(PUF60):c.505C>T (p.His169Tyr) rs398123001
NM_078480.3(PUF60):c.612_630del (p.Asn207fs) rs1816565452
NM_078480.3(PUF60):c.619_637del (p.Asn207fs) rs1554643142
NM_078480.3(PUF60):c.642del (p.Ile214_Ile215insTer)
NM_078480.3(PUF60):c.686A>C (p.Tyr229Ser) rs1816558436
NM_078480.3(PUF60):c.713C>G (p.Ser238Ter) rs1554643099
NM_078480.3(PUF60):c.803_809del (p.Gly268fs) rs2130244708
NM_078480.3(PUF60):c.841C>T (p.Gln281Ter)
NM_078480.3(PUF60):c.931del (p.Thr311fs) rs1586565506

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