ClinVar Miner

List of variants studied for congenital stationary night blindness by Sharon lab, Hadassah-Hebrew University Medical Center

Included ClinVar conditions (26):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 19
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HGVS dbSNP gnomAD frequency
NM_001252024.2(TRPM1):c.1263G>A (p.Pro421=) rs768701595 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_001256789.3(CACNA1F):c.4051C>T (p.Arg1351Ter) rs782740998 0.00001
NM_001252024.2(TRPM1):c.946A>T (p.Lys316Ter) rs1596029830
NM_001256789.3(CACNA1F):c.187_193dup (p.Ala65fs) rs1602658505
NM_001256789.3(CACNA1F):c.2225T>G (p.Phe742Cys) rs1602644716
NM_001256789.3(CACNA1F):c.2470G>T (p.Glu824Ter) rs1602641426
NM_001256789.3(CACNA1F):c.2650C>T (p.Arg884Ter) rs122456135
NM_001256789.3(CACNA1F):c.2772del (p.Cys925fs) rs1602639607
NM_001256789.3(CACNA1F):c.3921G>A (p.Trp1307Ter) rs1602630650
NM_001256789.3(CACNA1F):c.4261-9G>A rs1602628429
NM_001256789.3(CACNA1F):c.4454G>A (p.Gly1485Glu) rs1602627593
NM_001378477.3(NYX):c.1003T>G (p.Cys335Gly) rs1602181006
NM_001378477.3(NYX):c.1054_1055del (p.Val352fs) rs1602181043
NM_001378477.3(NYX):c.1246_1247dup (p.Ala417fs) rs1602181253
NM_001378477.3(NYX):c.335T>A (p.Leu112Gln) rs1602180352
NM_001378477.3(NYX):c.481G>C (p.Ala161Pro) rs1602180478
NM_001378477.3(NYX):c.782T>C (p.Leu261Pro) rs1602180791

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