ClinVar Miner

List of variants in gene PUF60 studied for syndrome caused by partial chromosomal deletion

Included ClinVar conditions (110):
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Gene type:
ClinVar version:
Total variants: 71
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HGVS dbSNP gnomAD frequency
NM_078480.3(PUF60):c.1254G>A (p.Glu418=) rs117178721 0.00062
NM_078480.3(PUF60):c.297+9C>T rs1028726810 0.00004
NM_078480.3(PUF60):c.1489A>G (p.Ile497Val) rs756399764 0.00001
NM_078480.3(PUF60):c.239A>G (p.Lys80Arg) rs1411433335 0.00001
NM_078480.3(PUF60):c.1006C>T (p.Gln336Ter)
NM_078480.3(PUF60):c.1046G>C (p.Gly349Ala)
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.116C>T (p.Thr39Ile)
NM_078480.3(PUF60):c.1187C>T (p.Ser396Leu)
NM_078480.3(PUF60):c.1292C>T (p.Pro431Leu) rs1816390931
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.1376A>G (p.Gln459Arg)
NM_078480.3(PUF60):c.1381-2A>G rs1057518681
NM_078480.3(PUF60):c.1381-3_1381-2del
NM_078480.3(PUF60):c.1384A>G (p.Thr462Ala)
NM_078480.3(PUF60):c.1448T>C (p.Val483Ala) rs1563818514
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.1569dup (p.Glu524Ter) rs1816322210
NM_078480.3(PUF60):c.1625T>A (p.Val542Glu)
NM_078480.3(PUF60):c.207+1G>A
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.274C>T (p.Gln92Ter) rs1210239952
NM_078480.3(PUF60):c.277C>T (p.Gln93Ter)
NM_078480.3(PUF60):c.284_285del (p.Leu95fs) rs1817027997
NM_078480.3(PUF60):c.361C>T (p.Arg121Trp) rs2130258570
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.389G>C (p.Arg130Pro) rs1554643584
NM_078480.3(PUF60):c.407_410del (p.Ile136fs) rs1563826453
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.478_479del (p.Met160fs) rs1554643473
NM_078480.3(PUF60):c.503_509del (p.Lys168fs) rs1563825893
NM_078480.3(PUF60):c.505C>T (p.His169Tyr) rs398123001
NM_078480.3(PUF60):c.510+1G>A rs1816618311
NM_078480.3(PUF60):c.530A>G (p.Tyr177Cys)
NM_078480.3(PUF60):c.541G>A (p.Glu181Lys) rs1085307135
NM_078480.3(PUF60):c.603G>A (p.Lys201=) rs1816591218
NM_078480.3(PUF60):c.60GGC[6] (p.Ala25dup) rs540307276
NM_078480.3(PUF60):c.612_630del (p.Asn207fs) rs1816565452
NM_078480.3(PUF60):c.613C>T (p.Pro205Ser) rs1439430129
NM_078480.3(PUF60):c.615del (p.Ser206fs)
NM_078480.3(PUF60):c.619_637del (p.Asn207fs) rs1554643142
NM_078480.3(PUF60):c.628C>T (p.Gln210Ter) rs1816565787
NM_078480.3(PUF60):c.636_640del (p.Gln212fs)
NM_078480.3(PUF60):c.642del (p.Ile214_Ile215insTer)
NM_078480.3(PUF60):c.668G>A (p.Arg223Gln) rs1317244394
NM_078480.3(PUF60):c.672dup (p.Phe225fs) rs2130247180
NM_078480.3(PUF60):c.686A>C (p.Tyr229Ser) rs1816558436
NM_078480.3(PUF60):c.712_713del (p.Ser238fs) rs1816555365
NM_078480.3(PUF60):c.713C>G (p.Ser238Ter) rs1554643099
NM_078480.3(PUF60):c.746_747insCACAC (p.Gly250fs) rs1816551992
NM_078480.3(PUF60):c.803_809del (p.Gly268fs) rs2130244708
NM_078480.3(PUF60):c.822C>G (p.Tyr274Ter)
NM_078480.3(PUF60):c.841C>T (p.Gln281Ter)
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.896T>A (p.Val299Glu)
NM_078480.3(PUF60):c.901A>T (p.Lys301Ter) rs1563823411
NM_078480.3(PUF60):c.914C>T (p.Pro305Leu)
NM_078480.3(PUF60):c.931del (p.Thr311fs) rs1586565506

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