ClinVar Miner

List of variants reported as uncertain significance for autosomal recessive nonsyndromic hearing loss 84A

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 9
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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.3873+5G>T rs1896196662
NM_001145026.2(PTPRQ):c.4534_4536dup (p.Phe1512_Gln1513insPhe)
NM_001145026.2(PTPRQ):c.6113C>T (p.Pro2038Leu) rs1900298602
NM_001145026.2(PTPRQ):c.6452_6453+2del rs1419198127
NM_001145026.2(PTPRQ):c.6602G>A (p.Ser2201Asn) rs2121285243

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