List of variants in gene MYO7A reported as uncertain significance by CeGaT Center for Human Genetics Tuebingen

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: 44

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HGVS	dbSNP	gnomAD frequency
NM_000260.4(MYO7A):c.803A>G (p.Lys268Arg)	rs184866544	0.00098
NM_000260.4(MYO7A):c.3283G>A (p.Glu1095Lys)	rs199810429	0.00049
NM_000260.4(MYO7A):c.614T>C (p.Ile205Thr)	rs200241993	0.00045
NM_000260.4(MYO7A):c.2506C>T (p.Arg836Cys)	rs375510570	0.00040
NM_000260.4(MYO7A):c.449G>A (p.Arg150Gln)	rs202245413	0.00036
NM_000260.4(MYO7A):c.731G>A (p.Arg244His)	rs121965081	0.00030
NM_000260.4(MYO7A):c.2798G>A (p.Arg933His)	rs201489714	0.00029
NM_000260.4(MYO7A):c.2476G>A (p.Ala826Thr)	rs368341987	0.00021
NM_000260.4(MYO7A):c.6247G>A (p.Ala2083Thr)	rs41298759	0.00021
NM_000260.4(MYO7A):c.1846C>T (p.Arg616Trp)	rs369195493	0.00019
NM_000260.4(MYO7A):c.1801G>A (p.Ala601Thr)	rs782481491	0.00014
NM_000260.4(MYO7A):c.2081C>T (p.Pro694Leu)	rs200057810	0.00011
NM_000260.4(MYO7A):c.3157C>T (p.Pro1053Ser)	rs370104824	0.00010
NM_000260.4(MYO7A):c.5356T>A (p.Ser1786Thr)	rs374576916	0.00010
NM_000260.4(MYO7A):c.3978C>T (p.Cys1326=)	rs111033376	0.00009
NM_000260.4(MYO7A):c.2755G>A (p.Ala919Thr)	rs782787324	0.00007
NM_000260.4(MYO7A):c.3134T>C (p.Ile1045Thr)	rs377326213	0.00005
NM_000260.4(MYO7A):c.5380G>A (p.Glu1794Lys)	rs762836180	0.00005
NM_000260.4(MYO7A):c.1619C>A (p.Pro540His)	rs782607566	0.00004
NM_000260.4(MYO7A):c.1901G>A (p.Arg634Gln)	rs781812509	0.00004
NM_000260.4(MYO7A):c.4844C>T (p.Pro1615Leu)	rs201321140	0.00004
NM_000260.4(MYO7A):c.2056C>T (p.Arg686Cys)	rs782364394	0.00003
NM_000260.4(MYO7A):c.4222C>G (p.Arg1408Gly)	rs377391891	0.00003
NM_000260.4(MYO7A):c.5900G>A (p.Arg1967Gln)	rs752881271	0.00003
NM_000260.4(MYO7A):c.3502C>T (p.Arg1168Trp)	rs554073390	0.00002
NM_000260.4(MYO7A):c.5291A>G (p.Glu1764Gly)	rs759346941	0.00002
NM_000260.4(MYO7A):c.1094A>C (p.Asp365Ala)	rs924913478	0.00001
NM_000260.4(MYO7A):c.1545G>T (p.Lys515Asn)	rs782313585	0.00001
NM_000260.4(MYO7A):c.2500C>T (p.Arg834Cys)	rs781869469	0.00001
NM_000260.4(MYO7A):c.3723A>T (p.Thr1241=)	rs767426033	0.00001
NM_000260.4(MYO7A):c.5772C>A (p.Ala1924=)	rs749438001	0.00001
NM_000260.4(MYO7A):c.6203T>G (p.Leu2068Arg)	rs779090765	0.00001
NM_000260.4(MYO7A):c.1117C>T (p.Arg373Cys)	rs868979094
NM_000260.4(MYO7A):c.1343+8G>T	rs2276278
NM_000260.4(MYO7A):c.1961G>A (p.Arg654His)	rs41298143
NM_000260.4(MYO7A):c.2283-8T>C
NM_000260.4(MYO7A):c.2386C>T (p.Arg796Trp)	rs111033339
NM_000260.4(MYO7A):c.3602G>A (p.Cys1201Tyr)	rs117966637
NM_000260.4(MYO7A):c.4152+6dup	rs1956152029
NM_000260.4(MYO7A):c.4192G>A (p.Val1398Ile)	rs369189548
NM_000260.4(MYO7A):c.4664C>A (p.Ser1555Tyr)	rs779524499
NM_000260.4(MYO7A):c.4997G>T (p.Ser1666Ile)
NM_000260.4(MYO7A):c.5494C>A (p.Arg1832=)	rs748080151
NM_000260.4(MYO7A):c.6276C>T (p.Ser2092=)	rs2135790712

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