List of variants in gene MYO7A reported as pathogenic by Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen

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: 11

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HGVS	dbSNP	gnomAD frequency
NM_000260.4(MYO7A):c.5648G>A (p.Arg1883Gln)	rs111033215	0.00004
NM_000260.4(MYO7A):c.6439-2A>G	rs397516330	0.00003
NM_000260.4(MYO7A):c.4117C>T (p.Arg1373Ter)	rs766641715	0.00001
NM_000260.4(MYO7A):c.494C>T (p.Thr165Met)	rs111033174	0.00001
NM_000260.4(MYO7A):c.5573T>C (p.Leu1858Pro)	rs368657015	0.00001
NM_000260.4(MYO7A):c.1740_1747del (p.Val581fs)	rs2135345560
NM_000260.4(MYO7A):c.397del (p.His133fs)	rs111033187
NM_000260.4(MYO7A):c.5208dup (p.Lys1737fs)	rs111033276
NM_000260.4(MYO7A):c.535_536del (p.Ser179fs)
NM_000260.4(MYO7A):c.5749G>T (p.Glu1917Ter)	rs780609120
NM_000260.4(MYO7A):c.6089del (p.Thr2030fs)	rs2135784410

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