ClinVar Miner

List of variants studied for cutis laxa, autosomal dominant 1 by OMIM

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7
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HGVS dbSNP gnomAD frequency
ELN, 1-BP DEL, 2159C
ELN, 25-BP DEL, NT2114
ELN, EX9-33DUP
NM_000501.4(ELN):c.1621C>T (p.Arg541Ter) rs137854453
NM_000501.4(ELN):c.1946del (p.Gly649fs) rs1797225811
NM_000501.4(ELN):c.1973del (p.Pro658fs)
NM_000501.4(ELN):c.2058del (p.Gly688fs) rs886039351

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