ClinVar Miner

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

Included ClinVar conditions (1):
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Total variants: 63
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HGVS dbSNP
NM_201631.4(TGM5):c.*252C>T rs7176183
NM_201631.4(TGM5):c.*430C>T rs577285021
NM_201631.4(TGM5):c.*510A>G
NM_201631.4(TGM5):c.*56T>C rs533062951
NM_201631.4(TGM5):c.10+11C>T rs113296343
NM_201631.4(TGM5):c.1055C>G (p.Ala352Gly) rs28756768
NM_201631.4(TGM5):c.1080C>T (p.Asp360=)
NM_201631.4(TGM5):c.11-11C>A rs200870480
NM_201631.4(TGM5):c.1104C>T (p.Asn368=) rs150457385
NM_201631.4(TGM5):c.1106-7C>T rs113249183
NM_201631.4(TGM5):c.1106-9C>G
NM_201631.4(TGM5):c.1209C>T (p.Cys403=) rs375801160
NM_201631.4(TGM5):c.122T>C (p.Leu41Pro) rs143601447
NM_201631.4(TGM5):c.1239G>A (p.Glu413=)
NM_201631.4(TGM5):c.1252C>A (p.Gln418Lys) rs144961145
NM_201631.4(TGM5):c.125C>A (p.Thr42Asn)
NM_201631.4(TGM5):c.1309C>T (p.Arg437Trp) rs375323388
NM_201631.4(TGM5):c.1335G>C (p.Lys445Asn) rs606231276
NM_201631.4(TGM5):c.1471C>T (p.Pro491Ser) rs552005220
NM_201631.4(TGM5):c.1498C>T (p.Arg500Ter) rs144532387
NM_201631.4(TGM5):c.1510G>A (p.Val504Met) rs7171797
NM_201631.4(TGM5):c.1552A>G (p.Asn518Asp)
NM_201631.4(TGM5):c.1562A>G (p.Gln521Arg) rs35985214
NM_201631.4(TGM5):c.167A>T (p.Asn56Ile) rs757831590
NM_201631.4(TGM5):c.1689G>A (p.Ala563=) rs141734428
NM_201631.4(TGM5):c.1714+14C>T
NM_201631.4(TGM5):c.1716A>G (p.Ala572=)
NM_201631.4(TGM5):c.1750T>C (p.Tyr584His)
NM_201631.4(TGM5):c.1773C>T (p.Asp591=) rs142648722
NM_201631.4(TGM5):c.1811_1815delinsTCCTTCA (p.Ser604fs) rs606231278
NM_201631.4(TGM5):c.1820A>C (p.Glu607Ala) rs80192997
NM_201631.4(TGM5):c.1822A>G (p.Lys608Glu) rs76456763
NM_201631.4(TGM5):c.1868C>T (p.Thr623Met)
NM_201631.4(TGM5):c.1891G>C (p.Val631Leu)
NM_201631.4(TGM5):c.1941G>A (p.Ser647=)
NM_201631.4(TGM5):c.1970T>C (p.Val657Ala)
NM_201631.4(TGM5):c.255del (p.Ser86fs) rs778322388
NM_201631.4(TGM5):c.258C>G (p.Ser86Arg)
NM_201631.4(TGM5):c.282C>G (p.Thr94=) rs144607106
NM_201631.4(TGM5):c.314G>A (p.Cys105Tyr) rs116753155
NM_201631.4(TGM5):c.326C>T (p.Thr109Met) rs113463533
NM_201631.4(TGM5):c.337G>T (p.Gly113Cys) rs112292549
NM_201631.4(TGM5):c.44C>G (p.Ser15Cys) rs61744878
NM_201631.4(TGM5):c.509A>G (p.Gln170Arg)
NM_201631.4(TGM5):c.600G>C (p.Lys200Asn)
NM_201631.4(TGM5):c.607C>T (p.His203Tyr)
NM_201631.4(TGM5):c.640del (p.Leu214fs) rs606231277
NM_201631.4(TGM5):c.654C>T (p.Pro218=) rs77256087
NM_201631.4(TGM5):c.660C>T (p.Tyr220=) rs555001
NM_201631.4(TGM5):c.723C>G (p.Asn241Lys) rs35578968
NM_201631.4(TGM5):c.763T>C (p.Trp255Arg) rs115677373
NM_201631.4(TGM5):c.768G>A (p.Thr256=) rs200482481
NM_201631.4(TGM5):c.810C>T (p.Cys270=)
NM_201631.4(TGM5):c.820C>A (p.Arg274Ser)
NM_201631.4(TGM5):c.821G>A (p.Arg274His) rs116616135
NM_201631.4(TGM5):c.834C>T (p.Cys278=)
NM_201631.4(TGM5):c.850G>A (p.Val284Ile)
NM_201631.4(TGM5):c.863-12C>T
NM_201631.4(TGM5):c.863-9T>C rs770164232
NM_201631.4(TGM5):c.897C>G (p.Ile299Met) rs886051172
NM_201631.4(TGM5):c.918C>T (p.His306=) rs886051171
NM_201631.4(TGM5):c.960C>T (p.Asn320=) rs34222269
NM_201631.4(TGM5):c.989A>T (p.Lys330Met) rs201805126

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