List of variants studied for perceptual disorders by Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology

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Minimum conflict level: Report conflict between different conditions
		ClinVar version:

Total variants: 22

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HGVS	dbSNP	gnomAD frequency
NM_005548.3(KARS1):c.1493C>T (p.Ala498Val)	rs1415687857	0.00001
NM_000350.3(ABCA4):c.2654-2A>C
NM_000601.6(HGF):c.1810T>C (p.Cys604Arg)
NM_001034853.2(RPGR):c.1753+2T>G
NM_001034853.2(RPGR):c.665del (p.Lys221_Leu222insTer)
NM_001297.5(CNGB1):c.2885T>G (p.Leu962Arg)
NM_001354768.3(NRL):c.619C>T (p.Arg207Cys)	rs2036279881
NM_001384910.1(GUCA1A):c.184A>C (p.Thr62Pro)
NM_005422.4(TECTA):c.1690C>T (p.Leu564Phe)	rs2135078204
NM_005530.3(IDH3A):c.532C>T (p.Arg178Cys)
NM_005548.3(KARS1):c.421A>C (p.Lys141Gln)	rs761347066
NM_006017.3(PROM1):c.1984-1G>A
NM_006343.3(MERTK):c.2173G>C (p.Ala725Pro)
NM_006531.5(IFT88):c.1528G>A (p.Ala510Thr)
NM_014249.4(NR2E3):c.1100+4A>G
NM_016239.4(MYO15A):c.488C>A (p.Ser163Ter)	rs773729617
NM_016239.4(MYO15A):c.9369C>A (p.Asp3123Glu)
NM_018418.5(SPATA7):c.901_912+1del
NM_019098.5(CNGB3):c.1096_1104del (p.Ile366_Ala368del)
NM_020461.4(TUBGCP6):c.4994A>G (p.Gln1665Arg)
NM_194248.3(OTOF):c.5788G>T (p.Glu1930Ter)	rs953404925
NM_203288.2(RP9):c.484_485del (p.Gln162fs)

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