ClinVar Miner

List of variants in gene TGM5 reported as uncertain significance for acral peeling skin syndrome

Included ClinVar conditions (1):
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Gene type:
ClinVar version:
Total variants: 35
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HGVS dbSNP
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.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.1106-9C>G
NM_201631.4(TGM5):c.1209C>T (p.Cys403=) rs375801160
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) rs148913728
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.1552A>G (p.Asn518Asp)
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.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.258C>G (p.Ser86Arg)
NM_201631.4(TGM5):c.600G>C (p.Lys200Asn)
NM_201631.4(TGM5):c.607C>T (p.His203Tyr)
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

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