List of variants studied for perceptual disorders by Centogene AG - the Rare Disease Company

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

Total variants: 16

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HGVS	dbSNP	gnomAD frequency
NM_000350.3(ABCA4):c.5908C>T (p.Leu1970Phe)	rs28938473	0.00362
NM_019098.5(CNGB3):c.1148del (p.Thr383fs)	rs397515360	0.00183
NM_000350.3(ABCA4):c.1411G>A (p.Glu471Lys)	rs1800548	0.00090
NM_000350.3(ABCA4):c.5338C>G (p.Pro1780Ala)	rs121909207	0.00014
NM_001298.3(CNGA3):c.1306C>T (p.Arg436Trp)	rs104893621	0.00003
NM_000350.3(ABCA4):c.5305C>A (p.Leu1769Met)	rs1274228304	0.00001
NM_000180.4(GUCY2D):c.131TGC[1] (p.Leu45del)	rs2151799258
NM_001243133.2(NLRP3):c.2047C>T (p.His683Tyr)	rs2103113675
NM_001256789.3(CACNA1F):c.4190_4191del (p.Glu1397fs)	rs2147897090
NM_004004.6(GJB2):c.235del (p.Leu79fs)	rs80338943
NM_015629.4(PRPF31):c.267del (p.Glu89fs)	rs2146409568
NM_020366.4(RPGRIP1):c.1107del (p.Glu370fs)	rs61751266
NM_025114.4(CEP290):c.384_387del (p.Asp128fs)	rs386834157
NM_033629.6(TREX1):c.621_622del (p.Ile207fs)	rs781199890
NM_170682.4(P2RX2):c.490C>T (p.Gln164Ter)	rs1488690731
NM_178857.6(RP1L1):c.6469_6470delinsAA (p.Ala2157Asn)	rs2117190218

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