ClinVar Miner

List of variants in gene MYO3A reported as likely pathogenic for autosomal recessive disease

Included ClinVar conditions (1198):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_017433.5(MYO3A):c.1463G>A (p.Gly488Glu) rs145970949 0.00022
NM_017433.5(MYO3A):c.4681C>T (p.Arg1561Ter) rs138593211 0.00020
NM_017433.5(MYO3A):c.2783C>G (p.Ser928Ter) rs778110879 0.00002
NM_017433.5(MYO3A):c.3003del (p.Tyr1002fs) rs746055369 0.00001
NM_017433.5(MYO3A):c.2636-1G>T rs1564602202
NM_017433.5(MYO3A):c.3093G>A (p.Trp1031Ter) rs2131991331
NM_017433.5(MYO3A):c.3383del (p.Asn1128fs)
NM_017433.5(MYO3A):c.3499del (p.Ser1167fs) rs752046945

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