List of variants in gene MYO7A reported as likely pathogenic by NIHR Bioresource Rare Diseases, University of Cambridge

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 10

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HGVS	dbSNP	gnomAD frequency
NM_000260.4(MYO7A):c.3719G>A (p.Arg1240Gln)	rs111033178	0.00005
NM_000260.4(MYO7A):c.2905-1G>A	rs1171417339	0.00003
NM_000260.4(MYO7A):c.3728C>T (p.Pro1243Leu)	rs750358148	0.00001
NM_000260.4(MYO7A):c.6551C>T (p.Thr2184Met)	rs1383147250	0.00001
NC_000011.10:g.77142712dup	rs1555051390
NM_000260.4(MYO7A):c.1849T>C (p.Ser617Pro)	rs782063761
NM_000260.4(MYO7A):c.1977del (p.Gly660fs)	rs1555078942
NM_000260.4(MYO7A):c.324C>A (p.Tyr108Ter)	rs116892396
NM_000260.4(MYO7A):c.3546C>A (p.Asn1182Lys)	rs1555090294
NM_000260.4(MYO7A):c.721C>T (p.Arg241Cys)	rs782166819

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