ClinVar Miner

List of variants in gene TGM5 studied for acral peeling skin syndrome

Included ClinVar conditions (1):
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Gene type:
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Total variants: 70
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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.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.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.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

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