ClinVar Miner

List of variants in gene AP4B1, PTPN22 studied for connective tissue disorder

Included ClinVar conditions (411):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_015967.8(PTPN22):c.1894+2T>C rs745646055 0.00001
NM_015967.8(PTPN22):c.841del (p.Leu281fs)
NM_015967.8(PTPN22):c.91C>G (p.Leu31Val)

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