ClinVar Miner

List of variants reported as likely benign for angiokeratoma corporis diffusum with arteriovenous fistulas

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
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HGVS dbSNP
NM_194454.3(KRIT1):c.46C>T (p.Arg16Cys)
NM_194454.3(KRIT1):c.845+10C>G
NM_194456.1(KRIT1):c.*132T>G rs572414111
NM_194456.1(KRIT1):c.*137del rs543954194
NM_194456.1(KRIT1):c.1938A>G (p.Thr646=) rs369915828
NM_194456.1(KRIT1):c.846-5dup rs373763254

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