ClinVar Miner

List of variants in gene PTPRQ reported as likely pathogenic for autosomal recessive disease

Included ClinVar conditions (1198):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_001145026.2(PTPRQ):c.1291C>T (p.Arg431Ter)
NM_001145026.2(PTPRQ):c.2621C>A (p.Ser874Ter) rs948217913
NM_001145026.2(PTPRQ):c.3022A>T (p.Asn1008Tyr)
NM_001145026.2(PTPRQ):c.3308_3309del (p.Leu1103fs)
NM_001145026.2(PTPRQ):c.5158_5159del (p.Ile1720fs) rs1565819402
NM_001145026.2(PTPRQ):c.6194_6453+1del rs2121280782
NM_001145026.2(PTPRQ):c.6739-1G>A rs1565855932

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