ClinVar Miner

List of variants in gene MYO3A reported as likely pathogenic

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Total variants: 31
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HGVS dbSNP gnomAD frequency
NM_017433.5(MYO3A):c.170A>C (p.Asp57Ala) rs146511800 0.00094
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.2506-1G>A rs201023600 0.00018
NM_017433.5(MYO3A):c.315del (p.Gly106fs) rs777580042 0.00009
NM_017433.5(MYO3A):c.1193C>A (p.Ser398Ter) rs769540160 0.00004
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.3274+1G>T rs201538580 0.00001
NM_017433.5(MYO3A):c.1563-1G>A
NM_017433.5(MYO3A):c.168+1G>T
NM_017433.5(MYO3A):c.192del (p.Glu65fs)
NM_017433.5(MYO3A):c.2263-2A>C rs1554833178
NM_017433.5(MYO3A):c.2421dup (p.Phe808fs)
NM_017433.5(MYO3A):c.2636-1G>T rs1564602202
NM_017433.5(MYO3A):c.2793+2del
NM_017433.5(MYO3A):c.3093G>A (p.Trp1031Ter) rs2131991331
NM_017433.5(MYO3A):c.3112-2A>G
NM_017433.5(MYO3A):c.3383del (p.Asn1128fs)
NM_017433.5(MYO3A):c.3499del (p.Ser1167fs) rs752046945
NM_017433.5(MYO3A):c.4293+1G>C
NM_017433.5(MYO3A):c.4335dup (p.Leu1446fs)
NM_017433.5(MYO3A):c.4341_4344del (p.Asn1447fs)
NM_017433.5(MYO3A):c.4399_4409del (p.Pro1467fs)
NM_017433.5(MYO3A):c.4508_4511del (p.Asn1503fs) rs757660866
NM_017433.5(MYO3A):c.4545+1G>C rs876657652
NM_017433.5(MYO3A):c.4586+2T>C rs1843661582
NM_017433.5(MYO3A):c.508+2T>C
NM_017433.5(MYO3A):c.555del (p.Ser185_Val186insTer) rs773432148
NM_017433.5(MYO3A):c.76_77delinsTA (p.Thr26Ter)
NM_017433.5(MYO3A):c.953+2T>C

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