ClinVar Miner

List of variants in gene TRPM1 reported as benign for congenital stationary night blindness 1C

Included ClinVar conditions (1):
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Gene type:
ClinVar version:
Total variants: 34
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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.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.1342G>A (p.Gly448Arg) rs73372436 0.00257
NM_001252024.2(TRPM1):c.729C>T (p.Gly243=) rs188427342 0.00029
NM_001252024.2(TRPM1):c.4812G>C (p.Val1604=) rs143866050 0.00016
NM_001252024.2(TRPM1):c.*549T>C rs112061822
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.3907G>A (p.Glu1303Lys) rs117855013
NM_001252024.2(TRPM1):c.4330C>G (p.Arg1444Gly) rs3784587
NM_001252024.2(TRPM1):c.4452G>A (p.Thr1484=) rs16956430

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