ClinVar Miner

List of variants in gene MYO7A reported as uncertain significance by Eurofins NTD LLC (GA)

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Gene type:
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Total variants: 72
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HGVS dbSNP gnomAD frequency
NM_000260.4(MYO7A):c.1554+8G>A rs111033227 0.00249
NM_000260.4(MYO7A):c.3750+9G>A rs111033252 0.00197
NM_000260.4(MYO7A):c.*8C>T rs370206645 0.00099
NM_000260.4(MYO7A):c.803A>G (p.Lys268Arg) rs184866544 0.00098
NM_000260.4(MYO7A):c.39C>A (p.Asp13Glu) rs199989979 0.00088
NM_000260.4(MYO7A):c.2886G>C (p.Gln962His) rs200641606 0.00073
NM_000260.4(MYO7A):c.3503+17G>A rs369969967 0.00073
NM_000260.4(MYO7A):c.3750+5G>A rs111033391 0.00063
NM_000260.4(MYO7A):c.3283G>A (p.Glu1095Lys) rs199810429 0.00049
NM_000260.4(MYO7A):c.676G>A (p.Ala226Thr) rs201753022 0.00048
NM_000260.4(MYO7A):c.2097C>T (p.Gly699=) rs373495082 0.00046
NM_000260.4(MYO7A):c.4066A>T (p.Ser1356Cys) rs201195495 0.00046
NM_000260.4(MYO7A):c.614T>C (p.Ile205Thr) rs200241993 0.00045
NM_000260.4(MYO7A):c.849+7C>G rs370740228 0.00035
NM_000260.4(MYO7A):c.4757A>G (p.Asn1586Ser) rs201251963 0.00034
NM_000260.4(MYO7A):c.5108C>T (p.Ala1703Val) rs199561332 0.00032
NM_000260.4(MYO7A):c.5253G>T (p.Pro1751=) rs377388669 0.00032
NM_000260.4(MYO7A):c.731G>A (p.Arg244His) rs121965081 0.00030
NM_000260.4(MYO7A):c.2293C>A (p.Leu765Met) rs201203036 0.00029
NM_000260.4(MYO7A):c.2798G>A (p.Arg933His) rs201489714 0.00029
NM_000260.4(MYO7A):c.6165C>T (p.Ser2055=) rs397516327 0.00029
NM_000260.4(MYO7A):c.3527G>A (p.Ser1176Asn) rs373147966 0.00026
NM_000260.4(MYO7A):c.2527G>A (p.Val843Met) rs140559111 0.00024
NM_000260.4(MYO7A):c.1288C>T (p.Arg430Cys) rs201839693 0.00023
NM_000260.4(MYO7A):c.3038C>T (p.Thr1013Ile) rs369539923 0.00023
NM_000260.4(MYO7A):c.2208G>A (p.Leu736=) rs373599360 0.00022
NM_000260.4(MYO7A):c.5688G>A (p.Gln1896=) rs570316231 0.00016
NM_000260.4(MYO7A):c.3404C>A (p.Ser1135Tyr) rs376688581 0.00015
NM_000260.4(MYO7A):c.4441+7C>T rs372493678 0.00012
NM_000260.4(MYO7A):c.1091C>A (p.Pro364Gln) rs782441745 0.00011
NM_000260.4(MYO7A):c.3297C>T (p.Pro1099=) rs367668576 0.00011
NM_000260.4(MYO7A):c.2088C>T (p.Tyr696=) rs781964494 0.00009
NM_000260.4(MYO7A):c.3750+7G>A rs397516305 0.00009
NM_000260.4(MYO7A):c.5480+10G>A rs768513428 0.00007
NM_000260.4(MYO7A):c.5618G>A (p.Arg1873Gln) rs397516322 0.00006
NM_000260.4(MYO7A):c.2006G>A (p.Arg669Gln) rs201178011 0.00005
NM_000260.4(MYO7A):c.3134T>C (p.Ile1045Thr) rs377326213 0.00005
NM_000260.4(MYO7A):c.5033G>A (p.Arg1678Gln) rs371115266 0.00005
NM_000260.4(MYO7A):c.5169-6C>T rs768594224 0.00005
NM_000260.4(MYO7A):c.2572C>T (p.Arg858Cys) rs797044681 0.00004
NM_000260.4(MYO7A):c.2827G>A (p.Val943Met) rs782008236 0.00004
NM_000260.4(MYO7A):c.3729G>A (p.Pro1243=) rs727504023 0.00004
NM_000260.4(MYO7A):c.6326C>T (p.Thr2109Ile) rs377670513 0.00004
NM_000260.4(MYO7A):c.2427G>T (p.Gln809His) rs782650544 0.00003
NM_000260.4(MYO7A):c.5589C>G (p.His1863Gln) rs727504024 0.00003
NM_000260.4(MYO7A):c.1209C>T (p.Tyr403=) rs782397746 0.00002
NM_000260.4(MYO7A):c.4851C>T (p.Pro1617=) rs372535399 0.00002
NM_000260.4(MYO7A):c.5004C>T (p.Tyr1668=) rs1479835169 0.00002
NM_000260.4(MYO7A):c.1056G>A (p.Leu352=) rs886044867 0.00001
NM_000260.4(MYO7A):c.1208A>G (p.Tyr403Cys) rs797044511 0.00001
NM_000260.4(MYO7A):c.1299C>T (p.Ile433=) rs782163200 0.00001
NM_000260.4(MYO7A):c.2025C>T (p.Arg675=) rs797044658 0.00001
NM_000260.4(MYO7A):c.2348G>A (p.Cys783Tyr) rs376014415 0.00001
NM_000260.4(MYO7A):c.2558G>A (p.Arg853His) rs111033437 0.00001
NM_000260.4(MYO7A):c.3582C>T (p.Leu1194=) rs886044828 0.00001
NM_000260.4(MYO7A):c.3595G>A (p.Val1199Met) rs782151104 0.00001
NM_000260.4(MYO7A):c.5896G>A (p.Val1966Ile) rs371313080 0.00001
NM_000260.4(MYO7A):c.2340T>G (p.Gly780=) rs782747237
NM_000260.4(MYO7A):c.2617C>T (p.Arg873Trp) rs200454015
NM_000260.4(MYO7A):c.3927G>T (p.Val1309=) rs181729570
NM_000260.4(MYO7A):c.398A>C (p.His133Pro) rs886044805
NM_000260.4(MYO7A):c.401T>C (p.Ile134Thr) rs111033181
NM_000260.4(MYO7A):c.4192G>A (p.Val1398Ile) rs369189548
NM_000260.4(MYO7A):c.4222C>T (p.Arg1408Cys) rs377391891
NM_000260.4(MYO7A):c.4441+8G>A rs766743441
NM_000260.4(MYO7A):c.4973A>G (p.Gln1658Arg) rs1565464627
NM_000260.4(MYO7A):c.500G>C (p.Ser167Thr) rs886044857
NM_000260.4(MYO7A):c.5227C>A (p.Arg1743=) rs111033287
NM_000260.4(MYO7A):c.5227C>T (p.Arg1743Trp) rs111033287
NM_000260.4(MYO7A):c.5494C>T (p.Arg1832Trp) rs748080151
NM_000260.4(MYO7A):c.578C>T (p.Thr193Ile) rs1188616455
NM_000260.4(MYO7A):c.5860C>G (p.Leu1954Val) rs948962

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