ClinVar Miner

Variants in gene MYO3A with conflicting interpretations "benign" and "likely benign"

Submission 1 (benign) minimum review status: Submission 1 (benign) method:
Submission 2 (likely benign) minimum review status: Submission 2 (likely benign) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 23
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_017433.5(MYO3A):c.624C>T (p.Asp208=) rs35010955 0.08016
NM_017433.5(MYO3A):c.660C>T (p.Ala220=) rs34067308 0.06790
NM_017433.5(MYO3A):c.2497G>T (p.Ala833Ser) rs33947968 0.06209
NM_017433.5(MYO3A):c.533C>T (p.Thr178Ile) rs33968748 0.01220
NM_017433.5(MYO3A):c.509-16T>C rs117238740 0.01031
NM_017433.5(MYO3A):c.3028G>A (p.Glu1010Lys) rs61729833 0.00965
NM_017433.5(MYO3A):c.3094G>A (p.Ala1032Thr) rs34918608 0.00845
NM_017433.5(MYO3A):c.4465A>G (p.Ile1489Val) rs147376000 0.00541
NM_017433.5(MYO3A):c.1777-14G>T rs4592324 0.00409
NM_017433.5(MYO3A):c.949G>C (p.Ala317Pro) rs61731652 0.00334
NM_017433.5(MYO3A):c.1559C>T (p.Ala520Val) rs72787346 0.00218
NM_017433.5(MYO3A):c.4462A>G (p.Lys1488Glu) rs34204285 0.00134
NM_017433.5(MYO3A):c.4439-12C>T rs201689300 0.00126
NM_017433.5(MYO3A):c.1566A>C (p.Gly522=) rs139121564 0.00111
NM_017433.5(MYO3A):c.1500G>A (p.Ala500=) rs146797033 0.00104
NM_017433.5(MYO3A):c.2214T>C (p.Asn738=) rs34803755 0.00084
NM_017433.5(MYO3A):c.3255C>T (p.Ser1085=) rs35541310 0.00044
NM_017433.5(MYO3A):c.3352A>G (p.Thr1118Ala) rs138955440 0.00037
NM_017433.5(MYO3A):c.2705A>C (p.Asn902Thr) rs142823078 0.00026
NM_017433.5(MYO3A):c.4530C>T (p.Tyr1510=) rs139504940 0.00009
NM_017433.5(MYO3A):c.1029A>G (p.Leu343=) rs544012938
NM_017433.5(MYO3A):c.1104_1105delinsTA (p.Val369Ile) rs386742102
NM_017433.5(MYO3A):c.2625G>C (p.Leu875=) rs371741845

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.