ClinVar Miner

List of variants studied for perceptual disorders by Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota

Included ClinVar conditions (765):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 46
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HGVS dbSNP gnomAD frequency
NM_138691.3(TMC1):c.1763+3A>G rs370898981 0.00056
NM_153700.2(STRC):c.4027C>T (p.Gln1343Ter) rs144948296 0.00018
NM_153700.2(STRC):c.4057C>T (p.Gln1353Ter) rs774312182 0.00011
NM_022124.6(CDH23):c.6442G>A (p.Asp2148Asn) rs111033271 0.00010
NM_000350.3(ABCA4):c.634C>T (p.Arg212Cys) rs61750200 0.00008
NM_019098.5(CNGB3):c.1006G>T (p.Glu336Ter) rs373862340 0.00007
NM_006017.3(PROM1):c.1301+2T>C rs775957498 0.00004
NM_001142800.2(EYS):c.6714del (p.Ile2239fs) rs752953889 0.00003
NM_001292063.2(OTOG):c.1666C>T (p.Gln556Ter) rs530874854 0.00003
NM_000350.3(ABCA4):c.1648G>A (p.Gly550Arg) rs61748558 0.00001
NM_001252024.2(TRPM1):c.279+147T>G rs150441866 0.00001
NM_004183.4(BEST1):c.89A>G (p.Lys30Arg) rs281865218 0.00001
NM_004249.4(RAB28):c.651T>G (p.Cys217Trp) rs751163782 0.00001
NM_152443.3(RDH12):c.506G>A (p.Arg169Gln) rs971610277 0.00001
NM_153700.2(STRC):c.4543C>T (p.Gln1515Ter) rs756606635 0.00001
NM_000322.5(PRPH2):c.584G>A (p.Arg195Gln) rs121918567
NM_001004334.4(GPR179):c.1727del (p.Tyr576fs) rs1567725425
NM_001017979.3(RAB28):c.355_356del (p.Glu119fs) rs1560141393
NM_001034853.2(RPGR):c.2384del (p.Glu795fs) rs1569237206
NM_001034853.2(RPGR):c.2405_2406del (p.Glu802fs) rs398122960
NM_001034853.2(RPGR):c.2442_2445del (p.Gly817fs) rs1569237077
NM_001034853.2(RPGR):c.2505_2506del (p.Glu836fs) rs1569236971
NM_001034853.2(RPGR):c.883C>T (p.Gln295Ter) rs2067562961
NM_001039213.4(CEACAM16):c.1122dup (p.Ala375fs) rs1599814534
NM_001142800.2(EYS):c.6269G>A (p.Trp2090Ter) rs1562263385
NM_001195263.2(PDZD7):c.2089del (p.Ala697fs) rs1055318738
NM_001201543.2(FAM161A):c.847C>T (p.Arg283Ter) rs748847284
NM_001292063.2(OTOG):c.7860G>A (p.Trp2620Ter) rs1565129771
NM_001854.4(COL11A1):c.2287G>T (p.Gly763Ter) rs2101794024
NM_004100.5(EYA4):c.1347C>G (p.Tyr449Ter) rs1562505728
NM_004183.4(BEST1):c.915T>G (p.Phe305Leu) rs1565036465
NM_005422.4(TECTA):c.3169T>A (p.Cys1057Ser) rs121909059
NM_006017.3(PROM1):c.1354dup (p.Tyr452fs) rs543698823
NM_006445.4(PRPF8):c.5804G>A (p.Arg1935His) rs1555550617
NM_006915.3(RP2):c.358C>T (p.Arg120Ter) rs104894927
NM_015629.4(PRPF31):c.239-2A>G rs1600334904
NM_020366.4(RPGRIP1):c.673del (p.His225fs) rs752263228
NM_022124.6(CDH23):c.4210-2A>G rs557620034
NM_022124.6(CDH23):c.8061C>G (p.Tyr2687Ter) rs1564803868
NM_031475.3(ESPN):c.2446G>T (p.Glu816Ter) rs1485674839
NM_080680.3(COL11A2):c.4135C>T (p.Arg1379Ter) rs121912950
NM_138691.3(TMC1):c.1714G>A (p.Asp572Asn) rs121908072
NM_138691.3(TMC1):c.885-2A>C rs1564554148
NM_144672.4(OTOA):c.2295del (p.Thr766fs) rs774366025
NM_153700.2(STRC):c.3499_4701+1del
NM_206933.4(USH2A):c.8089G>T (p.Glu2697Ter) rs1558146243

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