List of variants studied for perceptual disorders by Breda Genetics srl

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
		ClinVar version:

Total variants: 7

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HGVS	dbSNP	gnomAD frequency
NM_000260.4(MYO7A):c.3415G>A (p.Gly1139Ser)	rs200840044	0.00034
NM_001042702.5(PJVK):c.946A>C (p.Asn316His)	rs776028922	0.00008
NM_152443.3(RDH12):c.250C>T (p.Arg84Ter)	rs1349849938	0.00003
NM_004004.6(GJB2):c.71G>A (p.Trp24Ter)	rs104894396	0.00002
NM_001034853.2(RPGR):c.1348T>C (p.Cys450Arg)	rs794727019	0.00001
NM_001145308.5(LRTOMT):c.499C>T (p.Arg167Cys)	rs1038978268	0.00001
NM_002900.3(RBP3):c.1408del (p.Asp470fs)	rs1836931186

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