ClinVar Miner

List of variants in gene PTPRQ reported as uncertain significance for nonsyndromic genetic hearing loss

Included ClinVar conditions (246):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 20
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HGVS dbSNP gnomAD frequency
NM_001145026.2(PTPRQ):c.6586A>G (p.Met2196Val) rs200166814 0.00141
NM_001145026.2(PTPRQ):c.1847A>G (p.Gln616Arg) rs527967292 0.00030
NM_001145026.2(PTPRQ):c.6526G>A (p.Ala2176Thr) rs201371823 0.00021
NM_001145026.2(PTPRQ):c.6603-3T>G rs1195593420 0.00008
NM_001145026.2(PTPRQ):c.6299T>G (p.Met2100Arg) rs1330487603 0.00001
NM_001145026.2(PTPRQ):c.1540+5G>A
NM_001145026.2(PTPRQ):c.386T>G (p.Ile129Ser) rs1555180294
NM_001145026.2(PTPRQ):c.3873+5G>T rs1896196662
NM_001145026.2(PTPRQ):c.3974A>T (p.Asn1325Ile)
NM_001145026.2(PTPRQ):c.4534_4536dup (p.Phe1512_Gln1513insPhe)
NM_001145026.2(PTPRQ):c.5606A>G (p.Gln1869Arg) rs1275679740
NM_001145026.2(PTPRQ):c.5728G>A (p.Val1910Ile)
NM_001145026.2(PTPRQ):c.5893C>A (p.Leu1965Met)
NM_001145026.2(PTPRQ):c.5971C>T (p.His1991Tyr)
NM_001145026.2(PTPRQ):c.6113C>T (p.Pro2038Leu) rs1900298602
NM_001145026.2(PTPRQ):c.6325C>T (p.Arg2109Trp)
NM_001145026.2(PTPRQ):c.6452_6453+2del rs1419198127
NM_001145026.2(PTPRQ):c.6602G>A (p.Ser2201Asn) rs2121285243
NM_001145026.2(PTPRQ):c.6881G>A (p.Trp2294Ter) rs1555214288
NM_001145026.2(PTPRQ):c.731C>T (p.Ser244Leu)

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