ClinVar Miner

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

Submission 1 (uncertain significance) minimum review status: Submission 1 (uncertain significance) method:
Submission 2 (likely benign) minimum review status: Submission 2 (likely benign) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 17
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HGVS dbSNP gnomAD frequency
NM_017433.5(MYO3A):c.1275G>A (p.Gln425=) rs77562287 0.00150
NM_017433.5(MYO3A):c.424C>T (p.His142Tyr) rs140301218 0.00121
NM_017433.5(MYO3A):c.585+4A>T rs202189844 0.00095
NM_017433.5(MYO3A):c.3538G>A (p.Glu1180Lys) rs184043065 0.00078
NM_017433.5(MYO3A):c.3037C>T (p.Arg1013Cys) rs140154015 0.00049
NM_017433.5(MYO3A):c.3880A>G (p.Ile1294Val) rs56261037 0.00041
NM_017433.5(MYO3A):c.1248A>G (p.Gln416=) rs143749728 0.00035
NM_017433.5(MYO3A):c.3932C>G (p.Thr1311Ser) rs146693681 0.00033
NM_017433.5(MYO3A):c.426T>G (p.His142Gln) rs189595832 0.00029
NM_017433.5(MYO3A):c.2705A>C (p.Asn902Thr) rs142823078 0.00026
NM_017433.5(MYO3A):c.4045G>C (p.Ala1349Pro) rs149521185 0.00026
NM_017433.5(MYO3A):c.4073G>A (p.Arg1358Gln) rs141903506 0.00020
NM_017433.5(MYO3A):c.3730T>C (p.Tyr1244His) rs148993025 0.00019
NM_017433.5(MYO3A):c.610G>A (p.Asp204Asn) rs3737274 0.00009
NM_017433.5(MYO3A):c.1643C>A (p.Pro548His) rs143918373
NM_017433.5(MYO3A):c.3585G>T (p.Val1195=) rs372169216
NM_017433.5(MYO3A):c.4567C>G (p.Arg1523Gly) rs727504688

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