ClinVar Miner

List of variants reported as not provided for retinal disorder by GenomeConnect - Invitae Patient Insights Network

Included ClinVar conditions (500):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 48
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HGVS dbSNP gnomAD frequency
NM_000350.3(ABCA4):c.2588G>C (p.Gly863Ala) rs76157638 0.00445
NM_006017.3(PROM1):c.1345G>A (p.Val449Met) rs200620291 0.00152
NM_206933.4(USH2A):c.2276G>T (p.Cys759Phe) rs80338902 0.00137
NM_020461.4(TUBGCP6):c.589T>C (p.Ser197Pro) rs138586345 0.00113
NM_001377458.1(CLCC1):c.1600G>A (p.Ala534Thr) rs148212619 0.00081
NM_015662.3(IFT172):c.3674G>A (p.Arg1225Gln) rs141440865 0.00041
NM_014053.4(FLVCR1):c.1158T>G (p.Ile386Met) rs149834738 0.00032
NM_000539.3(RHO):c.209C>T (p.Thr70Met) rs143559914 0.00031
NM_001376.5(DYNC1H1):c.5971G>A (p.Asp1991Asn) rs151001016 0.00030
NM_172364.5(CACNA2D4):c.2170C>T (p.Arg724Trp) rs371178386 0.00015
NM_001122769.3(LCA5):c.521G>A (p.Arg174His) rs144016257 0.00014
NM_015072.5(TTLL5):c.1781A>G (p.Asp594Gly) rs148938066 0.00010
NM_012193.4(FZD4):c.50T>C (p.Val17Ala) rs369596520 0.00009
NM_000539.3(RHO):c.399C>A (p.Ile133=) rs372812523 0.00008
NM_001004334.4(GPR179):c.5872T>C (p.Cys1958Arg) rs368927813 0.00007
NM_000350.3(ABCA4):c.4594G>A (p.Asp1532Asn) rs62642574 0.00006
NM_001376.5(DYNC1H1):c.2869-3C>T rs750614475 0.00004
NM_004523.4(KIF11):c.2836C>T (p.His946Tyr) rs201290831 0.00004
NM_152443.3(RDH12):c.295C>A (p.Leu99Ile) rs28940315 0.00004
NM_000180.4(GUCY2D):c.2595del (p.Lys866fs) rs1200134985 0.00003
NM_014714.4(IFT140):c.4041-5G>A rs754813435 0.00003
NM_024741.3(ZNF408):c.925T>G (p.Leu309Val) rs368603073 0.00003
NM_201253.3(CRB1):c.3307G>A (p.Gly1103Arg) rs62636275 0.00003
NM_001004334.4(GPR179):c.2605C>T (p.Arg869Trp) rs576833922 0.00002
NM_001563.4(IMPG1):c.332G>A (p.Arg111Gln) rs200194885 0.00002
NM_002900.3(RBP3):c.749G>A (p.Arg250His) rs782477232 0.00002
NM_206933.4(USH2A):c.6133C>T (p.His2045Tyr) rs749333215 0.00002
NM_000539.3(RHO):c.551A>G (p.Gln184Arg) rs1402468701 0.00001
NM_001376.5(DYNC1H1):c.13414G>A (p.Gly4472Ser) rs199692678 0.00001
NM_001844.5(COL2A1):c.2638G>A (p.Val880Met) rs886043832 0.00001
NM_001851.6(COL9A1):c.1150C>T (p.Pro384Ser) rs148751593 0.00001
NM_002335.4(LRP5):c.4583A>C (p.Tyr1528Ser) rs1182722973 0.00001
NM_002900.3(RBP3):c.1532A>T (p.Asp511Val) rs1555211247 0.00001
NM_006204.4(PDE6C):c.2284-10C>A rs1199306848 0.00001
NM_019098.5(CNGB3):c.644-1G>C rs201794629 0.00001
NM_021620.4(PRDM13):c.870C>T (p.Gly290=) rs1035992118 0.00001
NM_152443.3(RDH12):c.210dup (p.Arg71fs) rs797044761 0.00001
NM_001122769.3(LCA5):c.469A>G (p.Ile157Val) rs901281230
NM_001297.5(CNGB1):c.1089GGA[6] (p.Glu371dup) rs141566950
NM_001367823.1(ARHGEF18):c.1006G>T (p.Asp336Tyr) rs201764417
NM_001376.5(DYNC1H1):c.13777G>A (p.Val4593Ile) rs750566844
NM_001563.4(IMPG1):c.1751T>C (p.Met584Thr) rs1782008139
NM_001903.5(CTNNA1):c.1726A>G (p.Thr576Ala) rs1580855958
NM_004055.5(CAPN5):c.728G>T (p.Arg243Leu) rs397514601
NM_006017.3(PROM1):c.1682+3A>G rs1326022839
NM_006017.3(PROM1):c.2281-2A>G rs1718768311
NM_006445.4(PRPF8):c.5377-1G>T rs1911505318
NM_014003.4(DHX38):c.3193G>C (p.Asp1065His) rs752923486

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