ClinVar Miner

List of variants in gene TRPM1 studied for congenital stationary night blindness

Included ClinVar conditions (26):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 171
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HGVS dbSNP gnomAD frequency
NM_001252024.2(TRPM1):c.4-36G>A rs4779817 0.85121
NM_001252024.2(TRPM1):c.68T>C (p.Met23Thr) rs4779816 0.85041
NM_001252024.2(TRPM1):c.161G>A (p.Ser54Asn) rs2241493 0.79957
NM_001252024.2(TRPM1):c.2406T>C (p.Asn802=) rs2288242 0.78132
NM_001252024.2(TRPM1):c.*571G>A rs11070718 0.53803
NM_001252024.2(TRPM1):c.1305G>A (p.Thr435=) rs1035705 0.47013
NM_001252024.2(TRPM1):c.2373T>C (p.Tyr791=) rs12913672 0.24521
NM_001252024.2(TRPM1):c.*251A>G rs17227989 0.16454
NM_001252024.2(TRPM1):c.2541C>T (p.Asn847=) rs12911350 0.12346
NM_001252024.2(TRPM1):c.4560T>A (p.His1520Gln) rs12898290 0.06327
NM_001252024.2(TRPM1):c.4189G>T (p.Glu1397Ter) rs3784589 0.06326
NM_001252024.2(TRPM1):c.4249G>A (p.Val1417Ile) rs3784588 0.05322
NM_001252024.2(TRPM1):c.3752A>C (p.Asn1251Thr) rs17227996 0.04213
NM_001252024.2(TRPM1):c.4201C>A (p.Pro1401Thr) rs61734298 0.02860
NM_001252024.2(TRPM1):c.234T>C (p.Tyr78=) rs74010762 0.02659
NM_001252024.2(TRPM1):c.1879G>A (p.Val627Met) rs17815774 0.02393
NM_001252024.2(TRPM1):c.1572+14A>G rs17228080 0.02373
NM_001252024.2(TRPM1):c.*447G>C rs35415636 0.01490
NM_001252024.2(TRPM1):c.1644C>T (p.Tyr548=) rs34647453 0.00956
NM_001252024.2(TRPM1):c.4744G>A (p.Val1582Met) rs61734295 0.00844
NM_001252024.2(TRPM1):c.1261C>A (p.Pro421Thr) rs141540242 0.00803
NM_001252024.2(TRPM1):c.3980G>A (p.Arg1327His) rs13380059 0.00682
NM_001252024.2(TRPM1):c.*723T>C rs143353770 0.00654
NM_001252024.2(TRPM1):c.4007C>T (p.Thr1336Met) rs111421899 0.00551
NM_001252024.2(TRPM1):c.1764+9C>G rs147073624 0.00537
NM_001252024.2(TRPM1):c.3938C>T (p.Thr1313Met) rs114875010 0.00511
NM_001252024.2(TRPM1):c.536C>T (p.Ser179Phe) rs138886378 0.00409
NM_001252024.2(TRPM1):c.615G>A (p.Lys205=) rs141363524 0.00337
NM_001252024.2(TRPM1):c.2316+12G>A rs76451613 0.00325
NM_001252024.2(TRPM1):c.2991C>T (p.Val997=) rs115529590 0.00272
NM_001252024.2(TRPM1):c.4349C>T (p.Thr1450Met) rs113814575 0.00271
NM_001252024.2(TRPM1):c.1342G>A (p.Gly448Arg) rs73372436 0.00257
NM_001252024.2(TRPM1):c.1573-10T>C rs202224865 0.00162
NM_001252024.2(TRPM1):c.600A>G (p.Glu200=) rs200934141 0.00157
NM_001252024.2(TRPM1):c.1255C>T (p.His419Tyr) rs201213623 0.00104
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.4502G>A (p.Arg1501His) rs111649153 0.00053
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.*206A>G rs185083296 0.00044
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.729C>T (p.Gly243=) rs188427342 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.362T>C (p.Leu121Pro) rs191205969 0.00016
NM_001252024.2(TRPM1):c.4812G>C (p.Val1604=) rs143866050 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.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.1285C>A (p.Pro429Thr) rs374376006 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.2543C>T (p.Ala848Val) rs180869804 0.00004
NM_001252024.2(TRPM1):c.2631C>G (p.Gly877=) rs150735353 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.3017G>A (p.Arg1006His) rs775810789 0.00003
NM_001252024.2(TRPM1):c.3070A>T (p.Ile1024Phe) rs369484186 0.00003
NM_001252024.2(TRPM1):c.3191T>G (p.Leu1064Arg) rs200561247 0.00003
NM_001252024.2(TRPM1):c.1764G>C (p.Arg588Ser) rs779709494 0.00002
NM_001252024.2(TRPM1):c.1936C>T (p.Arg646Cys) rs387906862 0.00002
NM_001252024.2(TRPM1):c.2316+11C>T rs369026007 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.1263G>A (p.Pro421=) rs768701595 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.1898C>A (p.Pro633His) rs267607139 0.00001
NM_001252024.2(TRPM1):c.191G>C (p.Trp64Ser) rs754980973 0.00001
NM_001252024.2(TRPM1):c.1966C>T (p.Arg656Ter) rs763546583 0.00001
NM_001252024.2(TRPM1):c.2087+2T>C rs766862238 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.2633G>A (p.Trp878Ter) rs765645888 0.00001
NM_001252024.2(TRPM1):c.2695C>T (p.Arg899Ter) rs1485132228 0.00001
NM_001252024.2(TRPM1):c.279+147T>G rs150441866 0.00001
NM_001252024.2(TRPM1):c.2834A>G (p.Tyr945Cys) rs756380069 0.00001
NM_001252024.2(TRPM1):c.3007G>A (p.Gly1003Arg) rs769138762 0.00001
NM_001252024.2(TRPM1):c.3148+1G>A rs779821510 0.00001
NM_001252024.2(TRPM1):c.3214dup (p.Trp1072fs) rs770380556 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
NG_016453.2:g.66830_103274del
NM_001252024.2(TRPM1):c.*240G>T rs138295515
NM_001252024.2(TRPM1):c.*250T>C rs2031763037
NM_001252024.2(TRPM1):c.*549T>C rs112061822
NM_001252024.2(TRPM1):c.*651C>T rs184781100
NM_001252024.2(TRPM1):c.*65A>G rs2031769261
NM_001252024.2(TRPM1):c.1089+3_1089+6del rs772011426
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.1305_1324del (p.Glu436fs)
NM_001252024.2(TRPM1):c.1460T>A (p.Met487Lys) rs1596017653
NM_001252024.2(TRPM1):c.1525A>G (p.Met509Val) rs2033876591
NM_001252024.2(TRPM1):c.1623+1G>A rs2033825467
NM_001252024.2(TRPM1):c.2013C>A (p.Tyr671Ter) rs1195734631
NM_001252024.2(TRPM1):c.2149G>A (p.Ala717Thr) rs138944426
NM_001252024.2(TRPM1):c.2149G>C (p.Ala717Pro) rs138944426
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.2711C>A (p.Ser904Ter) rs786205113
NM_001252024.2(TRPM1):c.282T>G (p.Tyr94Ter) rs372529012
NM_001252024.2(TRPM1):c.2843A>G (p.Tyr948Cys) rs1356433853
NM_001252024.2(TRPM1):c.2860T>G (p.Cys954Gly)
NM_001252024.2(TRPM1):c.3104_3105dup (p.Val1036fs) rs754705612
NM_001252024.2(TRPM1):c.3155G>A (p.Cys1052Tyr) rs1555418784
NM_001252024.2(TRPM1):c.3171T>A (p.Tyr1057Ter) rs267607140
NM_001252024.2(TRPM1):c.3174T>A (p.Asp1058Glu) rs748046539
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.3666dup (p.Glu1223Ter) rs1566982738
NM_001252024.2(TRPM1):c.380G>A (p.Gly127Glu) rs1555424849
NM_001252024.2(TRPM1):c.3907G>A (p.Glu1303Lys) rs117855013
NM_001252024.2(TRPM1):c.4286T>C (p.Ile1429Thr) rs886051029
NM_001252024.2(TRPM1):c.4330C>G (p.Arg1444Gly) rs3784587
NM_001252024.2(TRPM1):c.4330C>T (p.Arg1444Cys) rs3784587
NM_001252024.2(TRPM1):c.4452G>A (p.Thr1484=) rs16956430
NM_001252024.2(TRPM1):c.4694T>C (p.Leu1565Ser) rs2031784574
NM_001252024.2(TRPM1):c.4793_4796dup (p.Ser1600fs) rs2031777349
NM_001252024.2(TRPM1):c.482del (p.Gly161fs) rs1226505973
NM_001252024.2(TRPM1):c.4842del (p.Lys1615fs) rs2141098146
NM_001252024.2(TRPM1):c.493+13C>T rs372144508
NM_001252024.2(TRPM1):c.618+3_618+6del rs781610444
NM_001252024.2(TRPM1):c.773T>C (p.Leu258Pro) rs869312176
NM_001252024.2(TRPM1):c.832G>A (p.Gly278Arg) rs1555424166
NM_001252024.2(TRPM1):c.846G>C (p.Val282=) rs773186865
NM_001252024.2(TRPM1):c.946A>T (p.Lys316Ter) rs1596029830
NM_001252024.2(TRPM1):c.970A>G (p.Ile324Val) rs886051032
NM_001252024.2(TRPM1):c.97C>T (p.Gln33Ter) rs267607141

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