ClinVar Miner

List of variants studied for Acral peeling skin syndrome

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 74
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_201631.4(TGM5):c.660C>T (p.Tyr220=) rs555001 0.42220
NM_201631.4(TGM5):c.1055C>G (p.Ala352Gly) rs28756768 0.20951
NM_201631.4(TGM5):c.*252C>T rs7176183 0.04835
NM_201631.4(TGM5):c.1510G>A (p.Val504Met) rs7171797 0.03875
NM_201631.4(TGM5):c.960C>T (p.Asn320=) rs34222269 0.03866
NM_201631.4(TGM5):c.44C>G (p.Ser15Cys) rs61744878 0.02998
NM_201631.4(TGM5):c.10+11C>T rs113296343 0.02990
NM_201631.4(TGM5):c.654C>T (p.Pro218=) rs77256087 0.02739
NM_201631.4(TGM5):c.1106-7C>T rs113249183 0.01507
NM_201631.4(TGM5):c.1562A>G (p.Gln521Arg) rs35985214 0.01269
NM_201631.4(TGM5):c.1822A>G (p.Lys608Glu) rs76456763 0.01253
NM_201631.4(TGM5):c.1970T>C (p.Val657Ala) rs80058195 0.00967
NM_201631.4(TGM5):c.1820A>C (p.Glu607Ala) rs80192997 0.00965
NM_201631.4(TGM5):c.326C>T (p.Thr109Met) rs113463533 0.00516
NM_201631.4(TGM5):c.723C>G (p.Asn241Lys) rs35578968 0.00367
NM_201631.4(TGM5):c.282C>G (p.Thr94=) rs144607106 0.00339
NM_201631.4(TGM5):c.337G>T (p.Gly113Cys) rs112292549 0.00252
NM_201631.4(TGM5):c.1773C>T (p.Asp591=) rs142648722 0.00234
NM_201631.4(TGM5):c.125C>A (p.Thr42Asn) rs148913728 0.00206
NM_201631.4(TGM5):c.314G>A (p.Cys105Tyr) rs116753155 0.00185
NM_201631.4(TGM5):c.850G>A (p.Val284Ile) rs144575810 0.00069
NM_201631.4(TGM5):c.1689G>A (p.Ala563=) rs141734428 0.00066
NM_201631.4(TGM5):c.1750T>C (p.Tyr584His) rs146901531 0.00051
NM_201631.4(TGM5):c.1080C>T (p.Asp360=) rs145306565 0.00046
NM_201631.4(TGM5):c.*56T>C rs533062951 0.00037
NM_201631.4(TGM5):c.1104C>T (p.Asn368=) rs150457385 0.00037
NM_201631.4(TGM5):c.1868C>T (p.Thr623Met) rs143722994 0.00036
NM_201631.4(TGM5):c.11-11C>A rs200870480 0.00035
NM_201631.4(TGM5):c.1239G>A (p.Glu413=) rs181083834 0.00019
NM_201631.4(TGM5):c.1716A>G (p.Ala572=) rs139273996 0.00015
NM_201631.4(TGM5):c.763T>C (p.Trp255Arg) rs115677373 0.00015
NM_201631.4(TGM5):c.258C>G (p.Ser86Arg) rs138507857 0.00014
NM_201631.4(TGM5):c.821G>A (p.Arg274His) rs116616135 0.00012
NM_201631.4(TGM5):c.509A>G (p.Gln170Arg) rs115121346 0.00009
NM_201631.4(TGM5):c.*430C>T rs577285021 0.00007
NM_201631.4(TGM5):c.1471C>T (p.Pro491Ser) rs552005220 0.00007
NM_201631.4(TGM5):c.1335G>C (p.Lys445Asn) rs606231276 0.00004
NM_201631.4(TGM5):c.1498C>T (p.Arg500Ter) rs144532387 0.00004
NM_201631.4(TGM5):c.167A>T (p.Asn56Ile) rs757831590 0.00004
NM_201631.4(TGM5):c.989A>T (p.Lys330Met) rs201805126 0.00004
NM_201631.4(TGM5):c.1252C>A (p.Gln418Lys) rs144961145 0.00003
NM_201631.4(TGM5):c.863-12C>T rs552144761 0.00003
NM_201631.4(TGM5):c.918C>T (p.His306=) rs886051171 0.00003
NM_201631.4(TGM5):c.122T>C (p.Leu41Pro) rs143601447 0.00001
NM_201631.4(TGM5):c.1309C>T (p.Arg437Trp) rs375323388 0.00001
NM_201631.4(TGM5):c.600G>C (p.Lys200Asn) rs758206600 0.00001
NM_201631.4(TGM5):c.607C>T (p.His203Tyr) rs777982827 0.00001
NM_201631.4(TGM5):c.640del (p.Leu214fs) rs606231277 0.00001
NM_201631.4(TGM5):c.768G>A (p.Thr256=) rs200482481 0.00001
NM_201631.4(TGM5):c.810C>T (p.Cys270=) rs772342090 0.00001
NM_201631.4(TGM5):c.834C>T (p.Cys278=) rs2042714149 0.00001
NM_201631.4(TGM5):c.863-9T>C rs770164232 0.00001
NM_201631.4(TGM5):c.*510A>G rs1320032123
NM_201631.4(TGM5):c.10+2T>C rs2142390360
NM_201631.4(TGM5):c.1020T>A (p.Asn340Lys)
NM_201631.4(TGM5):c.1037G>A (p.Arg346Gln)
NM_201631.4(TGM5):c.1106-9C>G rs371121821
NM_201631.4(TGM5):c.115T>A (p.Phe39Ile)
NM_201631.4(TGM5):c.1209C>T (p.Cys403=) rs375801160
NM_201631.4(TGM5):c.1518A>T (p.Gln506His)
NM_201631.4(TGM5):c.1552A>G (p.Asn518Asp) rs2042583648
NM_201631.4(TGM5):c.1714+14C>T rs2042581228
NM_201631.4(TGM5):c.1811_1815delinsTCCTTCA (p.Ser604fs) rs606231278
NM_201631.4(TGM5):c.1891G>C (p.Val631Leu) rs773549912
NM_201631.4(TGM5):c.1941G>A (p.Ser647=) rs368928246
NM_201631.4(TGM5):c.2161T>C (p.Ter721Gln)
NM_201631.4(TGM5):c.255del (p.Ser86fs) rs778322388
NM_201631.4(TGM5):c.380C>T (p.Ser127Phe)
NM_201631.4(TGM5):c.393C>A (p.Tyr131Ter) rs755448082
NM_201631.4(TGM5):c.643C>T (p.Arg215Trp)
NM_201631.4(TGM5):c.774C>G (p.Ser258Arg)
NM_201631.4(TGM5):c.820C>A (p.Arg274Ser) rs775889084
NM_201631.4(TGM5):c.829C>T (p.Gln277Ter) rs1045182796
NM_201631.4(TGM5):c.897C>G (p.Ile299Met) rs886051172

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.