ClinVar Miner

List of variants in gene MYO6 reported as benign for autosomal recessive disease

Included ClinVar conditions (1198):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 16
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HGVS dbSNP gnomAD frequency
NM_004999.4(MYO6):c.817-21G>A rs7760587 0.99163
NM_004999.4(MYO6):c.*4114T>A rs7766661 0.72931
NM_004999.4(MYO6):c.*3835C>T rs7742137 0.51984
NM_004999.4(MYO6):c.*2027T>C rs6914716 0.39546
NM_004999.4(MYO6):c.*3940T>C rs11964034 0.33693
NM_004999.4(MYO6):c.*350T>C rs699186 0.33478
NM_004999.4(MYO6):c.2658+17C>T rs2295936 0.22603
NM_004999.4(MYO6):c.*12C>T rs12606 0.22544
NM_004999.4(MYO6):c.*3447A>C rs1341567 0.19296
NM_004999.4(MYO6):c.553+11T>C rs12210963 0.13246
NM_004999.4(MYO6):c.*459A>G rs1045758 0.13207
NM_004999.4(MYO6):c.*1703C>T rs9360957 0.03977
NM_004999.4(MYO6):c.1120T>C (p.Tyr374His) rs61732664 0.00738
NM_004999.4(MYO6):c.*3296G>T rs7741414
NM_004999.4(MYO6):c.*4283A>G rs7746476
NM_004999.4(MYO6):c.1546+7_1546+8del rs3831003

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