List of variants in gene MYO3A reported as pathogenic for autosomal recessive disease

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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_017433.5(MYO3A):c.892C>T (p.Gln298Ter)	rs563832490	0.00012
NM_017433.5(MYO3A):c.1370_1371del (p.Arg457fs)	rs760866131
NM_017433.5(MYO3A):c.1684A>T (p.Arg562Ter)	rs1564544199
NM_017433.5(MYO3A):c.1732G>T (p.Glu578Ter)	rs1564544348
NM_017433.5(MYO3A):c.1777-12G>A	rs1564568849
NM_017433.5(MYO3A):c.3129T>G (p.Tyr1043Ter)	rs193919333
NM_017433.5(MYO3A):c.3737_3738del (p.Glu1246fs)	rs2132036795
NM_017433.5(MYO3A):c.3948dup (p.Cys1317fs)	rs1589079163
NM_017433.5(MYO3A):c.4587-1G>A	rs1311980539
NM_017433.5(MYO3A):c.716T>C (p.Leu239Pro)
NM_017433.5(MYO3A):c.732-2A>G	rs1023746725

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