ClinVar Miner

List of variants reported as likely benign for Kindler syndrome by Illumina Clinical Services Laboratory,Illumina

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 13
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HGVS dbSNP
NM_017671.4(FERMT1):c.*1365C>A rs550060762
NM_017671.4(FERMT1):c.*2118A>G rs529395851
NM_017671.4(FERMT1):c.*2204T>C rs369543395
NM_017671.4(FERMT1):c.*266A>C rs144550350
NM_017671.4(FERMT1):c.-588C>T rs572613950
NM_017671.4(FERMT1):c.-609G>A rs184246100
NM_017671.4(FERMT1):c.-655C>T rs188963072
NM_017671.4(FERMT1):c.1627G>A (p.Val543Met)
NM_017671.4(FERMT1):c.293G>A (p.Arg98His)
NM_017671.4(FERMT1):c.747-12G>A rs138474338
NM_017671.5(FERMT1):c.*298G>T
NM_017671.5(FERMT1):c.*59A>G
NM_017671.5(FERMT1):c.1383C>T (p.Tyr461=)

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