ClinVar Miner

List of variants in gene MYO3A reported as pathogenic for not provided

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Total variants: 30
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HGVS dbSNP gnomAD frequency
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.892C>T (p.Gln298Ter) rs563832490 0.00012
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.4505T>G (p.Leu1502Ter) rs754217606 0.00003
NM_017433.5(MYO3A):c.3819G>A (p.Trp1273Ter) rs762088627 0.00001
GRCh37/hg19 10p12.1(chr10:26476682-26493359)x1
NC_000010.10:g.(?_26462572)_(26463506_?)del
NC_000010.11:g.26016820del
NM_017433.5(MYO3A):c.133C>T (p.Gln45Ter)
NM_017433.5(MYO3A):c.1370_1371del (p.Arg457fs) rs760866131
NM_017433.5(MYO3A):c.2090T>G (p.Leu697Trp) rs1564573788
NM_017433.5(MYO3A):c.2180dup (p.Asn727fs) rs769462859
NM_017433.5(MYO3A):c.3154C>T (p.Arg1052Ter)
NM_017433.5(MYO3A):c.3225C>G (p.Tyr1075Ter)
NM_017433.5(MYO3A):c.3447_3448del (p.Arg1150fs) rs764507216
NM_017433.5(MYO3A):c.3499del (p.Ser1167fs) rs752046945
NM_017433.5(MYO3A):c.3574dup (p.Met1192fs) rs757810767
NM_017433.5(MYO3A):c.3876del (p.Arg1292fs)
NM_017433.5(MYO3A):c.4173_4174del (p.His1391fs) rs768570132
NM_017433.5(MYO3A):c.4298C>G (p.Ser1433Ter) rs143896117
NM_017433.5(MYO3A):c.4341_4344del (p.Asn1447fs)
NM_017433.5(MYO3A):c.4360C>T (p.Gln1454Ter)
NM_017433.5(MYO3A):c.4483C>T (p.Arg1495Ter)
NM_017433.5(MYO3A):c.4508_4511del (p.Asn1503fs) rs757660866
NM_017433.5(MYO3A):c.4545+2T>G
NM_017433.5(MYO3A):c.555del (p.Ser185_Val186insTer) rs773432148
NM_017433.5(MYO3A):c.743dup (p.Leu250fs)
NM_017433.5(MYO3A):c.76_77delinsTA (p.Thr26Ter)

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