ClinVar Miner

List of variants reported as uncertain significance for congenital stationary night blindness 1C by Illumina Laboratory Services, Illumina

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 91
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HGVS dbSNP gnomAD frequency
NM_001252024.2(TRPM1):c.600A>G (p.Glu200=) rs200934141 0.00157
NM_001252024.2(TRPM1):c.507C>T (p.His169=) rs201157794 0.00062
NM_001252024.2(TRPM1):c.4499C>T (p.Thr1500Met) rs201617759 0.00058
NM_001252024.2(TRPM1):c.*664A>G rs573027667 0.00048
NM_001252024.2(TRPM1):c.*229G>A rs543341268 0.00047
NM_001252024.2(TRPM1):c.4308C>A (p.Pro1436=) rs138216783 0.00045
NM_001252024.2(TRPM1):c.551G>A (p.Arg184Gln) rs188852505 0.00044
NM_001252024.2(TRPM1):c.2877C>T (p.Phe959=) rs370822722 0.00033
NM_001252024.2(TRPM1):c.4645G>C (p.Asp1549His) rs117105175 0.00033
NM_001252024.2(TRPM1):c.1795-8C>G rs183856964 0.00032
NM_001252024.2(TRPM1):c.2701-10T>A rs201747375 0.00031
NM_001252024.2(TRPM1):c.*482A>G rs188493932 0.00029
NM_001252024.2(TRPM1):c.3919G>A (p.Glu1307Lys) rs200906550 0.00029
NM_001252024.2(TRPM1):c.1089C>T (p.Leu363=) rs202130526 0.00027
NM_001252024.2(TRPM1):c.2496A>G (p.Lys832=) rs34915313 0.00026
NM_001252024.2(TRPM1):c.30C>T (p.Thr10=) rs180878088 0.00026
NM_001252024.2(TRPM1):c.3970T>C (p.Cys1324Arg) rs201888584 0.00024
NM_001252024.2(TRPM1):c.3294-15G>A rs376352901 0.00023
NM_001252024.2(TRPM1):c.795G>C (p.Leu265=) rs371394864 0.00021
NM_001252024.2(TRPM1):c.3252C>T (p.Val1084=) rs773508261 0.00018
NM_001252024.2(TRPM1):c.4367C>G (p.Thr1456Arg) rs61734297 0.00018
NM_001252024.2(TRPM1):c.1602G>A (p.Leu534=) rs368601558 0.00017
NM_001252024.2(TRPM1):c.2460C>G (p.Gly820=) rs185129255 0.00017
NM_001252024.2(TRPM1):c.2440-12T>A rs200151910 0.00016
NM_001252024.2(TRPM1):c.2653A>G (p.Ile885Val) rs201650867 0.00016
NM_001252024.2(TRPM1):c.*228C>T rs544752312 0.00014
NM_001252024.2(TRPM1):c.2297G>A (p.Arg766Gln) rs376234885 0.00014
NM_001252024.2(TRPM1):c.4781A>G (p.His1594Arg) rs200626726 0.00011
NM_001252024.2(TRPM1):c.2088-8C>T rs762208610 0.00008
NM_001252024.2(TRPM1):c.4755T>C (p.Ile1585=) rs201668928 0.00008
NM_001252024.2(TRPM1):c.2514C>T (p.Ile838=) rs376705938 0.00007
NM_001252024.2(TRPM1):c.3624T>C (p.Ser1208=) rs370122578 0.00007
NM_001252024.2(TRPM1):c.2246C>G (p.Thr749Ser) rs371356729 0.00006
NM_001252024.2(TRPM1):c.2285G>C (p.Arg762Thr) rs199546092 0.00006
NM_001252024.2(TRPM1):c.2888G>A (p.Arg963His) rs771644561 0.00006
NM_001252024.2(TRPM1):c.1890C>T (p.Phe630=) rs369315253 0.00005
NM_001252024.2(TRPM1):c.-101A>G rs574197357 0.00004
NM_001252024.2(TRPM1):c.1905C>T (p.His635=) rs377099385 0.00004
NM_001252024.2(TRPM1):c.2169C>T (p.Tyr723=) rs370305789 0.00004
NM_001252024.2(TRPM1):c.2542G>A (p.Ala848Thr) rs376766834 0.00004
NM_001252024.2(TRPM1):c.602A>T (p.Asp201Val) rs761283836 0.00004
NM_001252024.2(TRPM1):c.-143G>C rs995949757 0.00003
NM_001252024.2(TRPM1):c.3191T>G (p.Leu1064Arg) rs200561247 0.00003
NM_001252024.2(TRPM1):c.3563A>T (p.His1188Leu) rs577672274 0.00003
NM_001252024.2(TRPM1):c.1764G>C (p.Arg588Ser) rs779709494 0.00002
NM_001252024.2(TRPM1):c.2778C>T (p.Leu926=) rs761531039 0.00002
NM_001252024.2(TRPM1):c.4501C>T (p.Arg1501Cys) rs561717036 0.00002
NM_001252024.2(TRPM1):c.942G>A (p.Ala314=) rs768420045 0.00002
NM_001252024.2(TRPM1):c.*350C>G rs934884046 0.00001
NM_001252024.2(TRPM1):c.1126G>A (p.Asp376Asn) rs765946115 0.00001
NM_001252024.2(TRPM1):c.1333A>C (p.Thr445Pro) rs886051031 0.00001
NM_001252024.2(TRPM1):c.1455A>G (p.Gln485=) rs755094572 0.00001
NM_001252024.2(TRPM1):c.1623+5G>A rs765895314 0.00001
NM_001252024.2(TRPM1):c.1867G>A (p.Asp623Asn) rs769362413 0.00001
NM_001252024.2(TRPM1):c.191G>C (p.Trp64Ser) rs754980973 0.00001
NM_001252024.2(TRPM1):c.2087+6T>C rs760758606 0.00001
NM_001252024.2(TRPM1):c.2268C>T (p.Thr756=) rs756489745 0.00001
NM_001252024.2(TRPM1):c.2269G>A (p.Asp757Asn) rs369155075 0.00001
NM_001252024.2(TRPM1):c.2308G>A (p.Gly770Ser) rs746594891 0.00001
NM_001252024.2(TRPM1):c.2317-1G>C rs756690940 0.00001
NM_001252024.2(TRPM1):c.2440-2A>G rs762634272 0.00001
NM_001252024.2(TRPM1):c.2834A>G (p.Tyr945Cys) rs756380069 0.00001
NM_001252024.2(TRPM1):c.3148+1G>A rs779821510 0.00001
NM_001252024.2(TRPM1):c.3533A>G (p.His1178Arg) rs776483887 0.00001
NM_001252024.2(TRPM1):c.378T>C (p.His126=) rs769783908 0.00001
NM_001252024.2(TRPM1):c.386T>C (p.Leu129Pro) rs2034428006 0.00001
NM_001252024.2(TRPM1):c.4838A>T (p.Lys1613Met) rs753089696 0.00001
NM_001252024.2(TRPM1):c.494-8G>A rs757371423 0.00001
NM_001252024.2(TRPM1):c.75C>T (p.Asp25=) rs777321357 0.00001
NM_001252024.2(TRPM1):c.*240G>T rs138295515
NM_001252024.2(TRPM1):c.*250T>C rs2031763037
NM_001252024.2(TRPM1):c.*651C>T rs184781100
NM_001252024.2(TRPM1):c.*65A>G rs2031769261
NM_001252024.2(TRPM1):c.108C>A (p.Asn36Lys) rs886051034
NM_001252024.2(TRPM1):c.1265C>T (p.Pro422Leu) rs2033921068
NM_001252024.2(TRPM1):c.1525A>G (p.Met509Val) rs2033876591
NM_001252024.2(TRPM1):c.2268C>A (p.Thr756=) rs756489745
NM_001252024.2(TRPM1):c.2440-13C>A rs751355642
NM_001252024.2(TRPM1):c.254del (p.Gly85fs) rs1567032774
NM_001252024.2(TRPM1):c.2572A>G (p.Ile858Val) rs886051030
NM_001252024.2(TRPM1):c.2653A>C (p.Ile885Leu) rs201650867
NM_001252024.2(TRPM1):c.2843A>G (p.Tyr948Cys) rs1356433853
NM_001252024.2(TRPM1):c.3187C>T (p.Arg1063Trp) rs184390324
NM_001252024.2(TRPM1):c.330G>T (p.Met110Ile) rs886051033
NM_001252024.2(TRPM1):c.3590del (p.Gln1197fs) rs1566996007
NM_001252024.2(TRPM1):c.3666dup (p.Glu1223Ter) rs1566982738
NM_001252024.2(TRPM1):c.4286T>C (p.Ile1429Thr) rs886051029
NM_001252024.2(TRPM1):c.4694T>C (p.Leu1565Ser) rs2031784574
NM_001252024.2(TRPM1):c.493+13C>T rs372144508
NM_001252024.2(TRPM1):c.846G>C (p.Val282=) rs773186865
NM_001252024.2(TRPM1):c.970A>G (p.Ile324Val) rs886051032

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