ClinVar Miner

List of variants studied for acral peeling skin syndrome by OMIM

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
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NM_201631.4(TGM5):c.122T>C (p.Leu41Pro) rs143601447
NM_201631.4(TGM5):c.1335G>C (p.Lys445Asn) rs606231276
NM_201631.4(TGM5):c.1811_1815delinsTCCTTCA (p.Ser604fs) rs606231278
NM_201631.4(TGM5):c.337G>T (p.Gly113Cys) rs112292549
NM_201631.4(TGM5):c.640del (p.Leu214fs) rs606231277
NM_201631.4(TGM5):c.763T>C (p.Trp255Arg) rs115677373

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