ClinVar Miner

List of variants in gene MYO15A reported as likely pathogenic for not provided

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Gene type:
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Total variants: 95
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HGVS dbSNP gnomAD frequency
NM_016239.4(MYO15A):c.9620G>A (p.Arg3207His) rs199621031 0.00026
NM_016239.4(MYO15A):c.5978G>A (p.Arg1993Gln) rs117071200 0.00024
NM_016239.4(MYO15A):c.8090T>C (p.Val2697Ala) rs200451098 0.00013
NM_016239.4(MYO15A):c.6580C>T (p.Arg2194Trp) rs773551819 0.00011
NM_016239.4(MYO15A):c.8183G>A (p.Arg2728His) rs184435771 0.00011
NM_016239.4(MYO15A):c.9861C>T (p.Gly3287=) rs372466080 0.00011
NM_016239.4(MYO15A):c.6764+2T>A rs763975867 0.00009
NM_016239.4(MYO15A):c.4777G>A (p.Glu1593Lys) rs376469502 0.00008
NM_016239.4(MYO15A):c.6302T>C (p.Leu2101Pro) rs201908493 0.00008
NM_016239.4(MYO15A):c.8050T>C (p.Tyr2684His) rs376351191 0.00007
NM_016239.4(MYO15A):c.3524dup (p.Ser1176fs) rs766187994 0.00006
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.10202G>A (p.Arg3401His) rs370278266 0.00004
NM_016239.4(MYO15A):c.10573del (p.Ser3525fs) rs1270302810 0.00004
NM_016239.4(MYO15A):c.6371G>A (p.Arg2124Gln) rs368053088 0.00004
NM_016239.4(MYO15A):c.6863C>T (p.Ser2288Leu) rs886052676 0.00004
NM_016239.4(MYO15A):c.2629G>T (p.Glu877Ter) rs771720649 0.00003
NM_016239.4(MYO15A):c.4108C>T (p.Arg1370Cys) rs878854411 0.00002
NM_016239.4(MYO15A):c.4642G>A (p.Ala1548Thr) rs201067821 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.3866+1G>A rs374742590 0.00001
NM_016239.4(MYO15A):c.4216G>A (p.Glu1406Lys) rs759810756 0.00001
NM_016239.4(MYO15A):c.4252G>A (p.Gly1418Arg) rs753790346 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.5649+1G>T rs2046386900 0.00001
NM_016239.4(MYO15A):c.5693G>A (p.Arg1898Gln) rs756752580 0.00001
NM_016239.4(MYO15A):c.6610C>T (p.Arg2204Cys) rs727503312 0.00001
NM_016239.4(MYO15A):c.6787G>A (p.Gly2263Ser) rs375459945 0.00001
NM_016239.4(MYO15A):c.6956+1G>A rs1465311328 0.00001
NM_016239.4(MYO15A):c.7396-1G>A rs760461823 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.8005dup (p.Thr2669fs) rs1221876133 0.00001
NM_016239.4(MYO15A):c.8707C>T (p.Arg2903Ter) rs768257384 0.00001
NM_016239.4(MYO15A):c.1445G>A (p.Arg482Gln)
NM_016239.4(MYO15A):c.1603del (p.Leu535fs) rs762110822
NM_016239.4(MYO15A):c.2000del (p.Pro667fs) rs1597754305
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.484_488delinsACTT (p.Arg162fs)
NM_016239.4(MYO15A):c.4949_4953dup (p.Leu1652fs) rs1064797218
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.6004del (p.Glu2002fs)
NM_016239.4(MYO15A):c.6177+2T>G
NM_016239.4(MYO15A):c.6273+1G>T
NM_016239.4(MYO15A):c.6611G>A (p.Arg2204His) rs2046512154
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.7207G>T (p.Asp2403Tyr) rs878853227
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.7495C>T (p.Gln2499Ter) rs1567652792
NM_016239.4(MYO15A):c.7500del (p.Thr2501fs) rs1597803558
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.8309_8311del (p.Glu2770del) rs1555546699
NM_016239.4(MYO15A):c.8323C>T (p.Arg2775Cys)
NM_016239.4(MYO15A):c.8341G>C (p.Gly2781Arg) rs1555546717
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.9303+1G>T rs876657708
NM_016239.4(MYO15A):c.9775_9787+8del
NM_016239.4(MYO15A):c.9948+1G>A

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