ClinVar Miner

List of variants in gene MYO7A studied for Retinal dystrophy

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Total variants: 51
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HGVS dbSNP gnomAD frequency
NM_000260.4(MYO7A):c.614T>C (p.Ile205Thr) rs200241993 0.00045
NM_000260.4(MYO7A):c.3527G>A (p.Ser1176Asn) rs373147966 0.00026
NM_000260.4(MYO7A):c.1132C>T (p.Arg378Cys) rs199818783 0.00024
NM_000260.4(MYO7A):c.3476G>T (p.Gly1159Val) rs199897298 0.00021
NM_000260.4(MYO7A):c.4441+7C>T rs372493678 0.00012
NM_000260.4(MYO7A):c.3856G>A (p.Ala1286Thr) rs727503328 0.00006
NM_000260.4(MYO7A):c.3862G>C (p.Ala1288Pro) rs749747871 0.00006
NM_000260.4(MYO7A):c.3719G>A (p.Arg1240Gln) rs111033178 0.00005
NM_000260.4(MYO7A):c.4040G>A (p.Arg1347His) rs756324342 0.00005
NM_000260.4(MYO7A):c.631A>G (p.Ser211Gly) rs111033486 0.00005
NM_000260.4(MYO7A):c.3508G>A (p.Glu1170Lys) rs111033214 0.00004
NM_000260.4(MYO7A):c.401T>A (p.Ile134Asn) rs111033181 0.00003
NM_000260.4(MYO7A):c.1006C>T (p.Arg336Cys) rs369997614 0.00002
NM_000260.4(MYO7A):c.5392C>T (p.Gln1798Ter) rs397516317 0.00002
NM_000260.4(MYO7A):c.5899C>T (p.Arg1967Ter) rs376764423 0.00002
NM_000260.4(MYO7A):c.1135G>A (p.Gly379Arg) rs878853377 0.00001
NM_000260.4(MYO7A):c.1190C>A (p.Ala397Asp) rs1555067667 0.00001
NM_000260.4(MYO7A):c.1563del (p.Asp521fs) rs1064794012 0.00001
NM_000260.4(MYO7A):c.3055C>T (p.Arg1019Trp) rs781904621 0.00001
NM_000260.4(MYO7A):c.3795G>A (p.Met1265Ile) rs1378145255 0.00001
NM_000260.4(MYO7A):c.4293G>A (p.Trp1431Ter) rs397516308 0.00001
NM_000260.4(MYO7A):c.4354C>T (p.Gln1452Ter) rs778934538 0.00001
NM_000260.4(MYO7A):c.5101C>T (p.Arg1701Ter) rs111033182 0.00001
NM_000260.4(MYO7A):c.5804T>C (p.Leu1935Pro) rs397516323 0.00001
NM_000260.4(MYO7A):c.5944G>A (p.Gly1982Arg) rs761469964 0.00001
NM_000260.4(MYO7A):c.635G>A (p.Arg212His) rs28934610 0.00001
NM_000260.4(MYO7A):c.850-3C>G rs1187661885 0.00001
NM_000260.4(MYO7A):c.999T>G (p.Tyr333Ter) rs111033285 0.00001
NM_000260.4(MYO7A):c.1052C>A (p.Ser351Ter) rs782639389
NM_000260.4(MYO7A):c.1201-5T>C rs1555068154
NM_000260.4(MYO7A):c.1240A>G (p.Ile414Val) rs1952942887
NM_000260.4(MYO7A):c.132+5G>A rs397516284
NM_000260.4(MYO7A):c.1522T>C (p.Ser508Pro) rs1953075862
NM_000260.4(MYO7A):c.1623dup (p.Lys542fs) rs782077721
NM_000260.4(MYO7A):c.1976C>A (p.Ser659Ter) rs878853378
NM_000260.4(MYO7A):c.2288_2292delinsCA (p.Asn763_Phe764delinsThr) rs1954925828
NM_000260.4(MYO7A):c.2302A>T (p.Lys768Ter) rs1954927143
NM_000260.4(MYO7A):c.2464G>C (p.Ala822Pro) rs1955018761
NM_000260.4(MYO7A):c.2694+1G>A rs1955083613
NM_000260.4(MYO7A):c.3628A>T (p.Lys1210Ter) rs878853376
NM_000260.4(MYO7A):c.4115T>G (p.Val1372Gly) rs869312181
NM_000260.4(MYO7A):c.4385C>A (p.Ala1462Asp) rs868480782
NM_000260.4(MYO7A):c.4568+1G>A rs1956849074
NM_000260.4(MYO7A):c.4853-11C>G rs1957054424
NM_000260.4(MYO7A):c.5208dup (p.Lys1737fs) rs111033276
NM_000260.4(MYO7A):c.5215C>T (p.Arg1739Ter) rs111033477
NM_000260.4(MYO7A):c.5749G>T (p.Glu1917Ter) rs780609120
NM_000260.4(MYO7A):c.5892C>G (p.Asp1964Glu) rs1404887775
NM_000260.4(MYO7A):c.6025del (p.Ala2009fs) rs397516326
NM_000260.4(MYO7A):c.6355-2A>G rs1957972028
NM_000260.4(MYO7A):c.73G>A (p.Gly25Arg) rs782252317

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