List of variants in gene MYO7A reported by Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 28

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HGVS	dbSNP	gnomAD frequency
NM_000260.4(MYO7A):c.5715A>G (p.Lys1905=)	rs2276293	0.56709
NM_000260.4(MYO7A):c.47T>C (p.Leu16Ser)	rs1052030	0.47208
NM_000260.4(MYO7A):c.5866G>A (p.Val1956Ile)	rs142293185	0.00386
NM_000260.4(MYO7A):c.1605C>T (p.Asn535=)	rs111033228	0.00336
NM_000260.4(MYO7A):c.4805G>A (p.Arg1602Gln)	rs139889944	0.00121
NM_000260.4(MYO7A):c.3283G>A (p.Glu1095Lys)	rs199810429	0.00049
NM_000260.4(MYO7A):c.731G>A (p.Arg244His)	rs121965081	0.00030
NM_000260.4(MYO7A):c.3476G>T (p.Gly1159Val)	rs199897298	0.00021
NM_000260.4(MYO7A):c.1846C>T (p.Arg616Trp)	rs369195493	0.00019
NM_000260.4(MYO7A):c.5688G>A (p.Gln1896=)	rs570316231	0.00016
NM_000260.4(MYO7A):c.1403A>G (p.His468Arg)	rs200304238	0.00013
NM_000260.4(MYO7A):c.4195G>C (p.Asp1399His)	rs373080197	0.00009
NM_000260.4(MYO7A):c.2387G>A (p.Arg796Gln)	rs111033224	0.00008
NM_000260.4(MYO7A):c.3651C>T (p.His1217=)	rs776731918	0.00008
NM_000260.4(MYO7A):c.4739A>G (p.Tyr1580Cys)	rs370232066	0.00006
NM_000260.4(MYO7A):c.5618G>A (p.Arg1873Gln)	rs397516322	0.00006
NM_000260.4(MYO7A):c.652G>A (p.Asp218Asn)	rs201539845	0.00006
NM_000260.4(MYO7A):c.3719G>A (p.Arg1240Gln)	rs111033178	0.00005
NM_000260.4(MYO7A):c.4040G>A (p.Arg1347His)	rs756324342	0.00005
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.3289C>T (p.Gln1097Ter)	rs548381313	0.00001
NM_000260.4(MYO7A):c.5573T>C (p.Leu1858Pro)	rs368657015	0.00001
NM_000260.4(MYO7A):c.5581C>T (p.Arg1861Ter)	rs878864531	0.00001
NM_000260.4(MYO7A):c.635G>A (p.Arg212His)	rs28934610	0.00001
NM_000260.4(MYO7A):c.1373A>T (p.Asn458Ile)	rs121965084
NM_000260.4(MYO7A):c.2283-1G>T	rs397516295
NM_000260.4(MYO7A):c.5227C>T (p.Arg1743Trp)	rs111033287

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