ClinVar Miner

List of variants reported as likely benign for perceptual disorders by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

Included ClinVar conditions (765):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 56
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HGVS dbSNP gnomAD frequency
NM_014014.5(SNRNP200):c.5775C>G (p.Ala1925=) rs72825880 0.01765
NM_016239.4(MYO15A):c.2680C>T (p.Pro894Ser) rs76707172 0.00765
NM_198999.3(SLC26A5):c.-53-2A>G rs116900495 0.00748
NM_001142800.2(EYS):c.1596A>C (p.Lys532Asn) rs61753611 0.00740
NM_001142800.2(EYS):c.8422G>A (p.Ala2808Thr) rs111991705 0.00667
NM_001142800.2(EYS):c.7796A>G (p.His2599Arg) rs74636274 0.00587
NM_001242957.3(MAK):c.1715T>C (p.Ile572Thr) rs79544660 0.00488
NM_001142800.2(EYS):c.7578+18C>T rs147210136 0.00376
NM_001029883.3(PCARE):c.3739G>A (p.Gly1247Ser) rs187333111 0.00365
NM_001379180.1(ESRRB):c.*1474T>C rs188462546 0.00354
NM_001142800.2(EYS):c.5510G>C (p.Trp1837Ser) rs199689193 0.00333
NM_001384474.1(LOXHD1):c.5802C>A (p.Asn1934Lys) rs61733519 0.00316
NM_000440.3(PDE6A):c.1546C>G (p.Leu516Val) rs61733362 0.00312
NM_001297.5(CNGB1):c.1626C>T (p.Thr542=) rs148735841 0.00308
NM_006343.3(MERTK):c.2851G>A (p.Ala951Thr) rs148261231 0.00304
NM_006343.3(MERTK):c.2593C>T (p.Arg865Trp) rs2230516 0.00274
NM_001903.5(CTNNA1):c.655C>T (p.Pro219Ser) rs28363406 0.00259
NM_001039141.3(TRIOBP):c.584C>T (p.Thr195Ile) rs143157673 0.00258
NM_001039141.3(TRIOBP):c.4031G>A (p.Arg1344Gln) rs34066624 0.00238
NM_006269.2(RP1):c.3132A>C (p.Lys1044Asn) rs35234349 0.00236
NM_016239.4(MYO15A):c.7655-7C>G rs191171943 0.00211
NM_016239.4(MYO15A):c.10443G>A (p.Ala3481=) rs190486507 0.00208
NM_001384474.1(LOXHD1):c.2914G>A (p.Glu972Lys) rs367630521 0.00138
NM_014014.5(SNRNP200):c.5766C>T (p.Leu1922=) rs147427344 0.00133
NM_001039141.3(TRIOBP):c.815C>A (p.Thr272Lys) rs140901235 0.00119
NM_001903.5(CTNNA1):c.301+20T>G rs201543087 0.00098
NM_006269.2(RP1):c.228C>T (p.Leu76=) rs142600056 0.00073
NM_001029883.3(PCARE):c.1582C>T (p.Arg528Cys) rs80151896 0.00051
NM_012418.4(FSCN2):c.538C>T (p.Arg180Trp) rs200332556 0.00049
NM_016239.4(MYO15A):c.3203G>T (p.Cys1068Phe) rs189061214 0.00047
NM_014014.5(SNRNP200):c.2800A>G (p.Thr934Ala) rs149616320 0.00042
NM_016239.4(MYO15A):c.7069G>A (p.Gly2357Ser) rs201540919 0.00034
NM_001384474.1(LOXHD1):c.5400-3C>T rs528236655 0.00029
NM_022787.4(NMNAT1):c.764G>A (p.Ser255Asn) rs138626416 0.00024
NM_012418.4(FSCN2):c.718G>A (p.Ala240Thr) rs370156011 0.00019
NM_006445.4(PRPF8):c.4202+19A>G rs1279339161 0.00009
NM_001297.5(CNGB1):c.2958C>T (p.Asn986=) rs543509332 0.00006
NM_006445.4(PRPF8):c.690C>T (p.Phe230=) rs200640834 0.00006
NM_000307.5(POU3F4):c.24C>T (p.Pro8=) rs756362293 0.00005
NM_006445.4(PRPF8):c.6504C>T (p.Tyr2168=) rs753995574 0.00005
NM_006445.4(PRPF8):c.6108A>G (p.Gln2036=) rs373131838 0.00004
NM_001379270.1(CNGA1):c.858A>G (p.Thr286=) rs533594644 0.00002
NM_006269.2(RP1):c.3504G>A (p.Lys1168=) rs191997072 0.00002
NM_001384474.1(LOXHD1):c.141G>T (p.Val47=) rs749402939 0.00001
NM_001903.5(CTNNA1):c.1965C>T (p.Ser655=) rs760486358 0.00001
NM_006269.2(RP1):c.2511A>G (p.Gln837=) rs753558619 0.00001
NM_006269.2(RP1):c.615+19C>T rs374595990 0.00001
NM_006445.4(PRPF8):c.1099-8T>C rs200865270 0.00001
NM_001039141.3(TRIOBP):c.6472+14_6472+15insC rs546389039
NM_001256317.3(TMPRSS3):c.497G>T (p.Arg166Leu) rs150397427
NM_001379270.1(CNGA1):c.762G>A (p.Leu254=) rs374697239
NM_001384474.1(LOXHD1):c.1788A>G (p.Thr596=) rs368683058
NM_001903.5(CTNNA1):c.2433+220T>G
NM_006269.2(RP1):c.510T>G (p.Val170=) rs1407578080
NM_014014.5(SNRNP200):c.382-13T>C rs759075763
NM_133261.3(GIPC3):c.69G>A (p.Ala23=) rs150473323

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