ClinVar Miner

List of variants reported as likely benign for perceptual disorders by Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center

Included ClinVar conditions (765):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 45
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HGVS dbSNP gnomAD frequency
NM_001142800.2(EYS):c.1809C>T (p.Val603=) rs9345601 0.50550
NM_001297.5(CNGB1):c.1122-15C>T rs2303778 0.46316
NM_001142800.2(EYS):c.1712A>G (p.Gln571Arg) rs61753610 0.12981
NM_000843.4(GRM6):c.1307C>T (p.Thr436Ile) rs5019554 0.00766
NM_006204.4(PDE6C):c.1755G>T (p.Lys585Asn) rs45522236 0.00677
NM_001242957.3(MAK):c.1715T>C (p.Ile572Thr) rs79544660 0.00488
NM_022787.4(NMNAT1):c.115+3A>G rs181504239 0.00447
NM_012418.4(FSCN2):c.150C>G (p.Pro50=) rs184519759 0.00391
NM_001142800.2(EYS):c.977G>A (p.Ser326Asn) rs112822256 0.00379
NM_001029883.3(PCARE):c.3739G>A (p.Gly1247Ser) rs187333111 0.00365
NM_002929.3(GRK1):c.162C>T (p.Leu54=) rs73579342 0.00353
NM_145200.5(CABP4):c.360C>T (p.Phe120=) rs192900242 0.00342
NM_001004334.4(GPR179):c.6336G>A (p.Ala2112=) rs186214845 0.00296
NM_021961.6(TEAD1):c.675C>T (p.Leu225=) rs148823826 0.00290
NM_201548.5(CERKL):c.66C>G (p.Pro22=) rs199762900 0.00287
NM_000843.4(GRM6):c.1875C>T (p.Tyr625=) rs62638215 0.00277
NM_012418.4(FSCN2):c.49G>A (p.Val17Ile) rs137853900 0.00240
NM_172364.5(CACNA2D4):c.2891C>T (p.Ala964Val) rs201325274 0.00231
NM_172364.5(CACNA2D4):c.3356C>T (p.Pro1119Leu) rs145150489 0.00210
NM_020461.4(TUBGCP6):c.5139C>T (p.His1713=) rs149152116 0.00206
NM_000601.6(HGF):c.1008G>A (p.Glu336=) rs148714837 0.00202
NM_001029883.3(PCARE):c.2600C>T (p.Pro867Leu) rs182248363 0.00192
NM_001142800.2(EYS):c.4985A>T (p.Asp1662Val) rs147641443 0.00192
NM_003816.3(ADAM9):c.914+8T>A rs377447230 0.00173
NM_033100.4(CDHR1):c.1071C>T (p.Ser357=) rs146588811 0.00167
NM_033100.4(CDHR1):c.526-7C>G rs190906755 0.00166
NM_201548.5(CERKL):c.820+9G>A rs189638090 0.00163
NM_001004334.4(GPR179):c.5975G>A (p.Gly1992Asp) rs200936863 0.00160
NM_177965.4(CFAP418):c.528A>G (p.Thr176=) rs143748636 0.00155
NM_001201543.2(FAM161A):c.2064T>C (p.Ile688=) rs138464813 0.00145
NM_033100.4(CDHR1):c.1461G>A (p.Gly487=) rs141787212 0.00145
NM_172364.5(CACNA2D4):c.2095C>T (p.Leu699Phe) rs151121191 0.00130
NM_000929.3(PLA2G5):c.312T>C (p.His104=) rs149833360 0.00128
NM_001142800.2(EYS):c.4554A>C (p.Thr1518=) rs772339340 0.00124
NM_001377295.2(GNAT2):c.147C>T (p.Ile49=) rs146945932 0.00115
NM_201548.5(CERKL):c.735G>C (p.Leu245=) rs140898616 0.00093
NM_001297.5(CNGB1):c.2370-9C>T rs374373659 0.00055
NM_001004334.4(GPR179):c.3441C>T (p.Ser1147=) rs377711366 0.00054
NM_001004334.4(GPR179):c.795-4G>A rs150772690 0.00038
NM_001297.5(CNGB1):c.412+8C>A rs185727761 0.00030
NM_001297.5(CNGB1):c.838-4G>T rs375539469 0.00022
NM_001142800.2(EYS):c.334G>A (p.Val112Ile) rs112609906
NM_006204.4(PDE6C):c.252G>T (p.Leu84=) rs1131978
NM_015629.4(PRPF31):c.527+9G>T rs376994481
NM_020461.4(TUBGCP6):c.3732C>T (p.His1244=) rs140699312

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