ClinVar Miner

List of variants in gene MYO15A studied for Inborn genetic diseases

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Total variants: 181
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HGVS dbSNP gnomAD frequency
NM_016239.4(MYO15A):c.5754T>G (p.Ile1918Met) rs150403702 0.00197
NM_016239.4(MYO15A):c.9754A>G (p.Asn3252Asp) rs147458358 0.00177
NM_016239.4(MYO15A):c.2150G>C (p.Ser717Thr) rs546018470 0.00113
NM_016239.4(MYO15A):c.1552G>A (p.Glu518Lys) rs189255177 0.00105
NM_016239.4(MYO15A):c.269T>C (p.Met90Thr) rs373294263 0.00076
NM_016239.4(MYO15A):c.7984C>G (p.Leu2662Val) rs200930743 0.00058
NM_016239.4(MYO15A):c.877G>A (p.Asp293Asn) rs201415651 0.00051
NM_016239.4(MYO15A):c.9322G>A (p.Val3108Ile) rs201734915 0.00049
NM_016239.4(MYO15A):c.3203G>T (p.Cys1068Phe) rs189061214 0.00047
NM_016239.4(MYO15A):c.1562C>T (p.Pro521Leu) rs867630446 0.00038
NM_016239.4(MYO15A):c.7069G>A (p.Gly2357Ser) rs201540919 0.00034
NM_016239.4(MYO15A):c.9160C>G (p.Pro3054Ala) rs368760461 0.00032
NM_016239.4(MYO15A):c.2045C>T (p.Pro682Leu) rs993096170 0.00029
NM_016239.4(MYO15A):c.2225G>T (p.Arg742Leu) rs772776336 0.00028
NM_016239.4(MYO15A):c.8708G>A (p.Arg2903Gln) rs200781310 0.00020
NM_016239.4(MYO15A):c.2116G>A (p.Ala706Thr) rs932191004 0.00017
NM_016239.4(MYO15A):c.2287C>T (p.Arg763Trp) rs754311954 0.00015
NM_016239.4(MYO15A):c.3092C>T (p.Thr1031Ile) rs377182808 0.00015
NM_016239.4(MYO15A):c.4424T>C (p.Ile1475Thr) rs201808265 0.00014
NM_016239.4(MYO15A):c.959C>G (p.Ser320Trp) rs200056157 0.00013
NM_016239.4(MYO15A):c.8183G>A (p.Arg2728His) rs184435771 0.00011
NM_016239.4(MYO15A):c.9602G>A (p.Arg3201Gln) rs757095519 0.00010
NM_016239.4(MYO15A):c.1613G>A (p.Arg538His) rs552189642 0.00009
NM_016239.4(MYO15A):c.8816G>A (p.Arg2939His) rs377389290 0.00009
NM_016239.4(MYO15A):c.9665G>A (p.Arg3222His) rs201712137 0.00009
NM_016239.4(MYO15A):c.9115C>T (p.Arg3039Trp) rs770756964 0.00008
NM_016239.4(MYO15A):c.2012G>A (p.Ser671Asn) rs962124239 0.00007
NM_016239.4(MYO15A):c.10166G>A (p.Arg3389Gln) rs373536607 0.00006
NM_016239.4(MYO15A):c.215G>A (p.Arg72His) rs759523877 0.00006
NM_016239.4(MYO15A):c.4561G>C (p.Glu1521Gln) rs769189017 0.00006
NM_016239.4(MYO15A):c.5867G>A (p.Arg1956Gln) rs769596933 0.00006
NM_016239.4(MYO15A):c.5893C>T (p.Arg1965Cys) rs374485649 0.00006
NM_016239.4(MYO15A):c.6899A>C (p.Lys2300Thr) rs772965932 0.00006
NM_016239.4(MYO15A):c.1849A>C (p.Met617Leu) rs771145836 0.00004
NM_016239.4(MYO15A):c.2557C>A (p.Leu853Ile) rs930912569 0.00004
NM_016239.4(MYO15A):c.8281G>A (p.Val2761Met) rs367717396 0.00004
NM_016239.4(MYO15A):c.1967A>G (p.His656Arg) rs954909427 0.00003
NM_016239.4(MYO15A):c.526T>C (p.Ser176Pro) rs933766276 0.00003
NM_016239.4(MYO15A):c.5354T>C (p.Met1785Thr) rs775363115 0.00003
NM_016239.4(MYO15A):c.5380C>T (p.Arg1794Cys) rs369109640 0.00003
NM_016239.4(MYO15A):c.9328C>T (p.Arg3110Trp) rs773489275 0.00003
NM_016239.4(MYO15A):c.2015C>G (p.Ser672Cys) rs876657897 0.00002
NM_016239.4(MYO15A):c.2017G>A (p.Gly673Arg) rs1462012083 0.00002
NM_016239.4(MYO15A):c.3317G>A (p.Arg1106Gln) rs199952218 0.00002
NM_016239.4(MYO15A):c.10045C>T (p.Gln3349Ter) rs1345580310 0.00001
NM_016239.4(MYO15A):c.1589C>T (p.Pro530Leu) rs1263758551 0.00001
NM_016239.4(MYO15A):c.2112G>C (p.Trp704Cys) rs1397353590 0.00001
NM_016239.4(MYO15A):c.3751A>C (p.Ile1251Leu) rs755138984 0.00001
NM_016239.4(MYO15A):c.3841G>A (p.Gly1281Arg) rs576515898 0.00001
NM_016239.4(MYO15A):c.4178T>C (p.Leu1393Pro) rs755138870 0.00001
NM_016239.4(MYO15A):c.4430G>A (p.Arg1477His) rs374320243 0.00001
NM_016239.4(MYO15A):c.6356C>T (p.Ala2119Val) rs370756193 0.00001
NM_016239.4(MYO15A):c.6457G>A (p.Ala2153Thr) rs746552269 0.00001
NM_016239.4(MYO15A):c.7267G>A (p.Gly2423Ser) rs530783345 0.00001
NM_016239.4(MYO15A):c.10003A>G (p.Ser3335Gly)
NM_016239.4(MYO15A):c.10006G>A (p.Glu3336Lys)
NM_016239.4(MYO15A):c.10228G>C (p.Ala3410Pro) rs755643067
NM_016239.4(MYO15A):c.1022A>G (p.Tyr341Cys)
NM_016239.4(MYO15A):c.10292C>T (p.Ala3431Val)
NM_016239.4(MYO15A):c.1034C>T (p.Pro345Leu)
NM_016239.4(MYO15A):c.10373del (p.Leu3458fs) rs1310479415
NM_016239.4(MYO15A):c.1043C>A (p.Pro348Gln) rs202142174
NM_016239.4(MYO15A):c.10465C>T (p.Arg3489Cys)
NM_016239.4(MYO15A):c.10508G>A (p.Arg3503His)
NM_016239.4(MYO15A):c.1075C>G (p.Pro359Ala)
NM_016239.4(MYO15A):c.1144G>A (p.Glu382Lys)
NM_016239.4(MYO15A):c.1150G>A (p.Val384Ile)
NM_016239.4(MYO15A):c.1283C>T (p.Ala428Val)
NM_016239.4(MYO15A):c.1318G>C (p.Asp440His)
NM_016239.4(MYO15A):c.1321G>A (p.Ala441Thr)
NM_016239.4(MYO15A):c.1337A>T (p.Gln446Leu) rs2045884316
NM_016239.4(MYO15A):c.1352G>A (p.Arg451His)
NM_016239.4(MYO15A):c.1519T>G (p.Leu507Val)
NM_016239.4(MYO15A):c.1573G>A (p.Val525Met)
NM_016239.4(MYO15A):c.1631G>A (p.Arg544His)
NM_016239.4(MYO15A):c.1661dup (p.Leu555fs) rs1245338270
NM_016239.4(MYO15A):c.1693G>A (p.Val565Met)
NM_016239.4(MYO15A):c.1835A>G (p.Tyr612Cys)
NM_016239.4(MYO15A):c.1888A>G (p.Arg630Gly)
NM_016239.4(MYO15A):c.1891G>C (p.Ala631Pro)
NM_016239.4(MYO15A):c.1898C>A (p.Pro633Gln)
NM_016239.4(MYO15A):c.1918G>A (p.Asp640Asn)
NM_016239.4(MYO15A):c.1946C>G (p.Pro649Arg)
NM_016239.4(MYO15A):c.2024C>G (p.Pro675Arg)
NM_016239.4(MYO15A):c.218A>G (p.Lys73Arg)
NM_016239.4(MYO15A):c.2201A>C (p.Asp734Ala)
NM_016239.4(MYO15A):c.2215C>T (p.Pro739Ser)
NM_016239.4(MYO15A):c.2246G>A (p.Arg749His)
NM_016239.4(MYO15A):c.2254G>A (p.Gly752Arg)
NM_016239.4(MYO15A):c.2326C>T (p.Pro776Ser)
NM_016239.4(MYO15A):c.2348C>T (p.Ser783Leu)
NM_016239.4(MYO15A):c.2405G>A (p.Arg802His)
NM_016239.4(MYO15A):c.25A>C (p.Lys9Gln)
NM_016239.4(MYO15A):c.2641C>T (p.Arg881Trp)
NM_016239.4(MYO15A):c.2720G>A (p.Arg907Gln)
NM_016239.4(MYO15A):c.2729C>A (p.Pro910Gln)
NM_016239.4(MYO15A):c.2825C>T (p.Pro942Leu)
NM_016239.4(MYO15A):c.2879C>G (p.Pro960Arg)
NM_016239.4(MYO15A):c.2881G>A (p.Glu961Lys)
NM_016239.4(MYO15A):c.2933C>A (p.Pro978His)
NM_016239.4(MYO15A):c.3047C>T (p.Ala1016Val)
NM_016239.4(MYO15A):c.3122C>A (p.Pro1041His) rs200587502
NM_016239.4(MYO15A):c.3122C>T (p.Pro1041Leu)
NM_016239.4(MYO15A):c.3157G>C (p.Glu1053Gln)
NM_016239.4(MYO15A):c.3179G>A (p.Ser1060Asn)
NM_016239.4(MYO15A):c.3238C>T (p.Arg1080Cys)
NM_016239.4(MYO15A):c.3353T>C (p.Met1118Thr)
NM_016239.4(MYO15A):c.3359G>C (p.Arg1120Pro)
NM_016239.4(MYO15A):c.340C>T (p.Arg114Cys)
NM_016239.4(MYO15A):c.3443G>C (p.Arg1148Thr)
NM_016239.4(MYO15A):c.3478C>T (p.Arg1160Trp)
NM_016239.4(MYO15A):c.3479G>T (p.Arg1160Leu)
NM_016239.4(MYO15A):c.3539G>A (p.Gly1180Asp)
NM_016239.4(MYO15A):c.359T>G (p.Leu120Arg)
NM_016239.4(MYO15A):c.382A>G (p.Ser128Gly)
NM_016239.4(MYO15A):c.394A>C (p.Thr132Pro)
NM_016239.4(MYO15A):c.395C>T (p.Thr132Met) rs765835381
NM_016239.4(MYO15A):c.4031A>G (p.Gln1344Arg)
NM_016239.4(MYO15A):c.4057del (p.Leu1353fs) rs770991317
NM_016239.4(MYO15A):c.406_407insAGTT (p.Trp136Ter) rs1555537955
NM_016239.4(MYO15A):c.4366C>T (p.Arg1456Cys)
NM_016239.4(MYO15A):c.4410G>C (p.Glu1470Asp)
NM_016239.4(MYO15A):c.4547T>G (p.Leu1516Arg) rs1555543296
NM_016239.4(MYO15A):c.4615A>G (p.Ile1539Val)
NM_016239.4(MYO15A):c.5030A>G (p.Gln1677Arg)
NM_016239.4(MYO15A):c.5074C>T (p.Pro1692Ser)
NM_016239.4(MYO15A):c.518C>T (p.Pro173Leu)
NM_016239.4(MYO15A):c.5314G>A (p.Ala1772Thr)
NM_016239.4(MYO15A):c.5381G>A (p.Arg1794His)
NM_016239.4(MYO15A):c.5392C>T (p.Pro1798Ser)
NM_016239.4(MYO15A):c.5400C>G (p.His1800Gln)
NM_016239.4(MYO15A):c.5450G>A (p.Arg1817His)
NM_016239.4(MYO15A):c.5747T>G (p.Phe1916Cys)
NM_016239.4(MYO15A):c.5762G>A (p.Arg1921Gln)
NM_016239.4(MYO15A):c.6076G>A (p.Ala2026Thr)
NM_016239.4(MYO15A):c.6109C>G (p.Pro2037Ala)
NM_016239.4(MYO15A):c.631G>A (p.Glu211Lys)
NM_016239.4(MYO15A):c.633G>C (p.Glu211Asp)
NM_016239.4(MYO15A):c.6440dup (p.Trp2148fs) rs1555545225
NM_016239.4(MYO15A):c.6454G>A (p.Ala2152Thr)
NM_016239.4(MYO15A):c.6571G>A (p.Ala2191Thr)
NM_016239.4(MYO15A):c.6698A>G (p.Gln2233Arg)
NM_016239.4(MYO15A):c.712T>G (p.Tyr238Asp)
NM_016239.4(MYO15A):c.7205G>A (p.Gly2402Glu)
NM_016239.4(MYO15A):c.7210G>A (p.Ala2404Thr)
NM_016239.4(MYO15A):c.7244G>A (p.Arg2415His)
NM_016239.4(MYO15A):c.7477C>G (p.Pro2493Ala)
NM_016239.4(MYO15A):c.7546G>A (p.Ala2516Thr)
NM_016239.4(MYO15A):c.7619C>T (p.Pro2540Leu)
NM_016239.4(MYO15A):c.7624C>A (p.Leu2542Ile)
NM_016239.4(MYO15A):c.766G>A (p.Glu256Lys)
NM_016239.4(MYO15A):c.7688C>T (p.Thr2563Met)
NM_016239.4(MYO15A):c.7705T>C (p.Phe2569Leu)
NM_016239.4(MYO15A):c.7714C>T (p.Pro2572Ser)
NM_016239.4(MYO15A):c.7772G>A (p.Arg2591Gln)
NM_016239.4(MYO15A):c.7798G>A (p.Gly2600Arg)
NM_016239.4(MYO15A):c.77C>T (p.Pro26Leu)
NM_016239.4(MYO15A):c.7990C>G (p.Pro2664Ala)
NM_016239.4(MYO15A):c.8114G>A (p.Ser2705Asn)
NM_016239.4(MYO15A):c.8162C>T (p.Thr2721Met)
NM_016239.4(MYO15A):c.8167T>G (p.Ser2723Ala)
NM_016239.4(MYO15A):c.8215G>C (p.Ala2739Pro) rs748969088
NM_016239.4(MYO15A):c.8513A>C (p.Asn2838Thr)
NM_016239.4(MYO15A):c.8560G>A (p.Val2854Ile)
NM_016239.4(MYO15A):c.8590G>C (p.Glu2864Gln) rs1555546843
NM_016239.4(MYO15A):c.8597A>G (p.Lys2866Arg)
NM_016239.4(MYO15A):c.8683C>T (p.His2895Tyr)
NM_016239.4(MYO15A):c.8731G>A (p.Val2911Met)
NM_016239.4(MYO15A):c.881A>G (p.Tyr294Cys)
NM_016239.4(MYO15A):c.8911G>A (p.Val2971Met)
NM_016239.4(MYO15A):c.8957G>A (p.Arg2986His)
NM_016239.4(MYO15A):c.9200T>G (p.Leu3067Arg)
NM_016239.4(MYO15A):c.9283G>A (p.Val3095Met)
NM_016239.4(MYO15A):c.937G>A (p.Glu313Lys)
NM_016239.4(MYO15A):c.9500C>A (p.Pro3167Gln)
NM_016239.4(MYO15A):c.9590G>T (p.Ser3197Ile)
NM_016239.4(MYO15A):c.9767T>C (p.Ile3256Thr)
NM_016239.4(MYO15A):c.9775G>T (p.Val3259Phe)
NM_016239.4(MYO15A):c.9814C>T (p.Arg3272Cys)
NM_016239.4(MYO15A):c.9884G>A (p.Arg3295His)
NM_016239.4(MYO15A):c.9995G>C (p.Ser3332Thr)

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