List of variants in gene PTPRQ reported as uncertain significance for Autosomal recessive nonsyndromic hearing loss 84A

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 13

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HGVS	dbSNP	gnomAD frequency
NM_001145026.2(PTPRQ):c.1847A>G (p.Gln616Arg)	rs527967292	0.00025
NM_001145026.2(PTPRQ):c.6526G>A (p.Ala2176Thr)	rs201371823	0.00025
NM_001145026.2(PTPRQ):c.4534_4536dup (p.Phe1512_Gln1513insPhe)	rs1251831809	0.00013
NM_001145026.2(PTPRQ):c.6452_6453+2del	rs1419198127	0.00013
NM_001145026.2(PTPRQ):c.6603-3T>G	rs1195593420	0.00008
NM_001145026.2(PTPRQ):c.1540+5G>A
NM_001145026.2(PTPRQ):c.3873+5G>T	rs1896196662
NM_001145026.2(PTPRQ):c.5728G>A (p.Val1910Ile)
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.6602G>A (p.Ser2201Asn)	rs2121285243
NM_001145026.2(PTPRQ):c.731C>T (p.Ser244Leu)

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