ClinVar Miner

List of variants in gene MYO15A reported as likely pathogenic by Invitae

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Total variants: 56
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HGVS dbSNP gnomAD frequency
NM_016239.4(MYO15A):c.5978G>A (p.Arg1993Gln) rs117071200 0.00024
NM_016239.4(MYO15A):c.4769A>G (p.Tyr1590Cys) rs191828237 0.00006
NM_016239.4(MYO15A):c.8714-1G>A rs377015931 0.00006
NM_016239.4(MYO15A):c.6046+1G>A rs201978571 0.00005
NM_016239.4(MYO15A):c.4108C>T (p.Arg1370Cys) rs878854411 0.00002
NM_016239.4(MYO15A):c.5361-1G>T rs369700898 0.00002
NM_016239.4(MYO15A):c.8341-2A>C rs778404517 0.00002
NM_016239.4(MYO15A):c.10082+1G>A rs772568482 0.00001
NM_016239.4(MYO15A):c.4310A>G (p.Tyr1437Cys) rs749812958 0.00001
NM_016239.4(MYO15A):c.5491G>A (p.Gly1831Arg) rs1260018632 0.00001
NM_016239.4(MYO15A):c.6610C>T (p.Arg2204Cys) rs727503312 0.00001
NM_016239.4(MYO15A):c.7654+1G>C rs1338603862 0.00001
NM_016239.4(MYO15A):c.7893+1G>A rs727503316 0.00001
NM_016239.4(MYO15A):c.3867-2A>C
NM_016239.4(MYO15A):c.4039-2A>G
NM_016239.4(MYO15A):c.4072G>A (p.Gly1358Ser)
NM_016239.4(MYO15A):c.4142+2T>C
NM_016239.4(MYO15A):c.4143-1G>A
NM_016239.4(MYO15A):c.4310A>C (p.Tyr1437Ser)
NM_016239.4(MYO15A):c.4321-2A>T rs1597780918
NM_016239.4(MYO15A):c.5007+1G>A
NM_016239.4(MYO15A):c.5007+1G>C
NM_016239.4(MYO15A):c.5133+1G>A
NM_016239.4(MYO15A):c.5203C>T (p.Arg1735Trp)
NM_016239.4(MYO15A):c.5212-2A>G
NM_016239.4(MYO15A):c.5407-2A>T
NM_016239.4(MYO15A):c.5503C>T (p.Arg1835Cys)
NM_016239.4(MYO15A):c.5504G>T (p.Arg1835Leu) rs752816535
NM_016239.4(MYO15A):c.5507T>C (p.Leu1836Pro) rs1253612362
NM_016239.4(MYO15A):c.5649+1_5649+3del
NM_016239.4(MYO15A):c.6177+2T>G
NM_016239.4(MYO15A):c.6273+1G>T
NM_016239.4(MYO15A):c.6611G>T (p.Arg2204Leu)
NM_016239.4(MYO15A):c.6635A>G (p.Glu2212Gly)
NM_016239.4(MYO15A):c.6765-2A>G rs2142362830
NM_016239.4(MYO15A):c.6957-1G>A
NM_016239.4(MYO15A):c.6957-2A>C
NM_016239.4(MYO15A):c.7118-2A>C
NM_016239.4(MYO15A):c.7473+1G>A
NM_016239.4(MYO15A):c.7473+1G>C
NM_016239.4(MYO15A):c.7473+2T>G rs1475492059
NM_016239.4(MYO15A):c.7787+2T>A
NM_016239.4(MYO15A):c.8088+1G>C
NM_016239.4(MYO15A):c.8147A>G (p.Gln2716Arg) rs756607995
NM_016239.4(MYO15A):c.8225-2A>C
NM_016239.4(MYO15A):c.8323C>T (p.Arg2775Cys)
NM_016239.4(MYO15A):c.8467G>A (p.Asp2823Asn) rs878853238
NM_016239.4(MYO15A):c.8602-2A>G
NM_016239.4(MYO15A):c.8789-1G>A
NM_016239.4(MYO15A):c.8968-2A>G
NM_016239.4(MYO15A):c.9083+1G>C
NM_016239.4(MYO15A):c.9156+1G>A
NM_016239.4(MYO15A):c.9157-1G>A
NM_016239.4(MYO15A):c.9230-1G>A
NM_016239.4(MYO15A):c.9775_9787+8del
NM_016239.4(MYO15A):c.9948+1G>A

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