List of variants in gene MYO7A reported as pathogenic by Counsyl

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: 28

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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.1996C>T (p.Arg666Ter)	rs121965085	0.00004
NM_000260.4(MYO7A):c.3508G>A (p.Glu1170Lys)	rs111033214	0.00004
NM_000260.4(MYO7A):c.700C>T (p.Gln234Ter)	rs41298133	0.00004
NM_000260.4(MYO7A):c.6439-2A>G	rs397516330	0.00003
NM_000260.4(MYO7A):c.5392C>T (p.Gln1798Ter)	rs397516317	0.00002
NM_000260.4(MYO7A):c.5824G>T (p.Gly1942Ter)	rs111033192	0.00002
NM_000260.4(MYO7A):c.133-2A>G	rs782064437	0.00001
NM_000260.4(MYO7A):c.2461C>T (p.Gln821Ter)	rs1279918132	0.00001
NM_000260.4(MYO7A):c.3504-1G>C	rs1555090171	0.00001
NM_000260.4(MYO7A):c.3594C>A (p.Cys1198Ter)	rs782694195	0.00001
NM_000260.4(MYO7A):c.4117C>T (p.Arg1373Ter)	rs766641715	0.00001
NM_000260.4(MYO7A):c.470+1G>A	rs797044510	0.00001
NM_000260.4(MYO7A):c.4838del (p.Asp1613fs)	rs1199012623	0.00001
NM_000260.4(MYO7A):c.5581C>T (p.Arg1861Ter)	rs878864531	0.00001
NM_000260.4(MYO7A):c.6070C>T (p.Arg2024Ter)	rs111033198	0.00001
NM_000260.4(MYO7A):c.640G>A (p.Gly214Arg)	rs111033283	0.00001
NM_000260.4(MYO7A):c.999T>G (p.Tyr333Ter)	rs111033285	0.00001
NM_000260.4(MYO7A):c.1344-2A>G	rs111033415
NM_000260.4(MYO7A):c.19-2A>G	rs1555051384
NM_000260.4(MYO7A):c.2283-1G>T	rs397516295
NM_000260.4(MYO7A):c.4297del (p.Gln1433fs)	rs1555096223
NM_000260.4(MYO7A):c.52C>T (p.Gln18Ter)	rs1555051455
NM_000260.4(MYO7A):c.5632del (p.Ala1877_Leu1878insTer)	rs1299898646
NM_000260.4(MYO7A):c.5886_5889del (p.Phe1962fs)	rs1397834886
NM_000260.4(MYO7A):c.6025del (p.Ala2009fs)	rs397516326
NM_000260.4(MYO7A):c.6321G>A (p.Trp2107Ter)	rs773945008
NM_000260.4(MYO7A):c.93C>A (p.Cys31Ter)	rs35689081

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