ClinVar Miner

List of variants reported as likely pathogenic for perceptual disorders by Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre

Included ClinVar conditions (765):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 76
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HGVS dbSNP gnomAD frequency
NM_000350.3(ABCA4):c.6320G>A (p.Arg2107His) rs62642564 0.00654
NM_000350.3(ABCA4):c.5882G>A (p.Gly1961Glu) rs1800553 0.00269
NM_000350.3(ABCA4):c.2971G>C (p.Gly991Arg) rs61749455 0.00194
NM_201253.3(CRB1):c.2506C>A (p.Pro836Thr) rs116471343 0.00096
NM_000350.3(ABCA4):c.5077G>A (p.Val1693Ile) rs61750563 0.00088
NM_000441.2(SLC26A4):c.1003T>C (p.Phe335Leu) rs111033212 0.00077
NM_001039141.3(TRIOBP):c.163C>T (p.Arg55Ter) rs369119867 0.00011
NM_001298.3(CNGA3):c.485A>T (p.Asp162Val) rs747447519 0.00010
NM_000350.3(ABCA4):c.4793C>A (p.Ala1598Asp) rs61750155 0.00003
NM_000350.3(ABCA4):c.4739T>C (p.Leu1580Ser) rs777415466 0.00002
NM_001142800.2(EYS):c.6050G>T (p.Gly2017Val) rs868349465 0.00002
NM_022786.3(ARV1):c.565G>A (p.Gly189Arg) rs730882241 0.00002
NM_000180.4(GUCY2D):c.743C>T (p.Ser248Leu) rs138922415 0.00001
NM_001039141.3(TRIOBP):c.3202C>T (p.Arg1068Ter) rs118204030 0.00001
NM_001145308.5(LRTOMT):c.154C>T (p.Arg52Trp) rs1372399805 0.00001
NM_001145809.2(MYH14):c.2971G>A (p.Glu991Lys) rs367588704 0.00001
NM_004086.3(COCH):c.292C>T (p.Arg98Ter) rs756790858 0.00001
NM_201253.3(CRB1):c.1463T>C (p.Phe488Ser) rs777377174 0.00001
NM_000180.4(GUCY2D):c.1401dup (p.Leu468fs)
NM_000180.4(GUCY2D):c.2983C>T (p.Arg995Trp) rs61750187
NM_000180.4(GUCY2D):c.914del (p.His305fs) rs1598144694
NM_000274.4(OAT):c.889G>T (p.Gly297Cys)
NM_000306.4(POU1F1):c.731T>C (p.Ile244Thr)
NM_000326.5(RLBP1):c.203del (p.Glu68fs)
NM_000326.5(RLBP1):c.341T>C (p.Leu114Pro)
NM_000330.4(RS1):c.187T>C (p.Cys63Arg) rs2147194234
NM_000350.3(ABCA4):c.6044G>T (p.Gly2015Val)
NM_000441.2(SLC26A4):c.1234G>T (p.Val412Phe) rs111033527
NM_000441.2(SLC26A4):c.1340_1341insTCT (p.Lys447delinsAsnLeu)
NM_000541.5(SAG):c.182-1G>A
NM_000541.5(SAG):c.777C>G (p.Tyr259Ter)
NM_000843.4(GRM6):c.2236_2237del (p.Met746fs)
NM_001031679.3(MSRB3):c.-147T>G rs949229098
NM_001098.3(ACO2):c.569G>A (p.Gly190Asp)
NM_001122769.3(LCA5):c.386del (p.Leu129fs)
NM_001242957.3(MAK):c.168del (p.Lys56fs)
NM_001278293.3(ARL6):c.266C>T (p.Ala89Val) rs587777805
NM_001298.3(CNGA3):c.1085C>T (p.Thr362Ile) rs1574390811
NM_001379180.1(ESRRB):c.*1451C>G rs1485778712
NM_001384474.1(LOXHD1):c.486_487delinsGG (p.Ser162_Phe163delinsArgVal)
NM_001384474.1(LOXHD1):c.488del (p.Phe163fs)
NM_002700.3(POU4F3):c.488del (p.His163fs)
NM_002906.4(RDX):c.295C>T (p.Gln99Ter)
NM_003322.6(TULP1):c.1518C>A (p.Phe506Leu)
NM_004447.6(EPS8):c.676C>T (p.Gln226Ter)
NM_004523.4(KIF11):c.1235T>G (p.Leu412Ter)
NM_005422.4(TECTA):c.6076G>A (p.Val2026Ile)
NM_005797.4(MPZL2):c.417del (p.Leu140fs)
NM_006017.3(PROM1):c.2366del (p.Asp789fs)
NM_006269.2(RP1):c.3428del (p.Asn1143fs) rs1806088809
NM_006269.2(RP1):c.606C>A (p.Asp202Glu) rs1805879513
NM_006343.3(MERTK):c.2227G>A (p.Gly743Ser)
NM_006343.3(MERTK):c.2262C>G (p.Tyr754Ter) rs786205535
NM_006445.4(PRPF8):c.4338+2T>C
NM_007348.4(ATF6):c.1720-2A>T
NM_007348.4(ATF6):c.1805-2A>C
NM_016077.5(PTRH2):c.254A>C (p.Gln85Pro) rs730882234
NM_016239.4(MYO15A):c.2061_2062insT (p.Pro688fs)
NM_016247.4(IMPG2):c.380G>C (p.Arg127Pro) rs766305807
NM_019098.5(CNGB3):c.806T>C (p.Leu269Pro) rs1189928623
NM_020366.4(RPGRIP1):c.2236G>A (p.Gly746Arg)
NM_020366.4(RPGRIP1):c.487del (p.Arg163fs)
NM_024426.6(WT1):c.1208G>T (p.Cys403Phe)
NM_025114.4(CEP290):c.1359+1G>T
NM_025130.4(HKDC1):c.1250A>G (p.Tyr417Cys)
NM_025130.4(HKDC1):c.250G>A (p.Asp84Asn)
NM_133261.3(GIPC3):c.592+2T>C
NM_133497.4(KCNV2):c.238G>T (p.Glu80Ter)
NM_133497.4(KCNV2):c.427G>T (p.Glu143Ter) rs104894113
NM_153002.3(GPR156):c.1924del (p.Ser642fs)
NM_172225.2(DMBX1):c.352C>T (p.Arg118Trp) rs730882203
NM_201253.3(CRB1):c.1421G>A (p.Gly474Asp)
NM_201253.3(CRB1):c.2701G>T (p.Val901Phe) rs1664767158
NM_201253.3(CRB1):c.3495T>G (p.Cys1165Trp) rs1665099725
NM_201548.5(CERKL):c.695del (p.Gly232fs)
NM_201548.5(CERKL):c.812T>C (p.Ile271Thr) rs786205545

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