ClinVar Miner

List of variants reported as pathogenic for neuroocular syndrome

Included ClinVar conditions (2):
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Total variants: 15
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HGVS dbSNP gnomAD frequency
NM_020719.3(PRR12):c.3505C>T (p.Arg1169Trp) rs1435355373 0.00001
NM_020719.3(PRR12):c.1205del (p.Gly402fs)
NM_020719.3(PRR12):c.1521T>G (p.Tyr507Ter) rs1186740723
NM_020719.3(PRR12):c.1549_1568del (p.Pro517fs)
NM_020719.3(PRR12):c.1918G>T (p.Glu640Ter) rs1555740650
NM_020719.3(PRR12):c.2680_2695dup (p.Val899fs) rs2122298859
NM_020719.3(PRR12):c.2755C>T (p.Gln919Ter) rs2080776854
NM_020719.3(PRR12):c.3273del (p.Lys1092fs) rs2080782866
NM_020719.3(PRR12):c.3958C>T (p.Arg1320Ter) rs2122309575
NM_020719.3(PRR12):c.4502_4505del (p.Leu1501fs) rs1555741826
NM_020719.3(PRR12):c.521del (p.Pro174fs)
NM_020719.3(PRR12):c.5624-2A>G rs2122376761
NM_020719.3(PRR12):c.5909T>C (p.Leu1970Pro) rs2122390232
NM_020719.3(PRR12):c.790C>T (p.Gln264Ter) rs2080756986
NM_020719.3(PRR12):c.903_909dup (p.Pro304fs) rs1555740394

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