ClinVar Miner

List of variants studied for amyloidosis, primary localized cutaneous, 2

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_139017.7(IL31RA):c.129C>T (p.Pro43=) rs1009639 0.69690
NM_139017.7(IL31RA):c.606+29A>T rs10940491 0.64076
NM_139017.7(IL31RA):c.1449T>G (p.Gly483=) rs9632389 0.13291
NM_139017.7(IL31RA):c.1562C>T (p.Ser521Phe) rs1561123748
NM_139017.7(IL31RA):c.1819-26T>G rs16884641

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