ClinVar Miner

List of variants in gene combination FAM161A, LOC129933843 reported as uncertain significance for retinal disorder

Included ClinVar conditions (500):
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Gene type:
ClinVar version:
Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_001201543.2(FAM161A):c.139G>C (p.Glu47Gln) rs371812525 0.00027
NM_001201543.2(FAM161A):c.86A>G (p.Gln29Arg) rs763794474 0.00007
NM_001201543.2(FAM161A):c.159A>G (p.Lys53=) rs1184952883 0.00003
NM_001201543.2(FAM161A):c.122C>T (p.Ala41Val) rs768878474 0.00002
NM_001201543.2(FAM161A):c.176G>A (p.Gly59Glu) rs758153602 0.00002
NM_001201543.2(FAM161A):c.161T>A (p.Val54Glu) rs755697413 0.00001
NM_001201543.2(FAM161A):c.182C>T (p.Ser61Leu) rs374779101 0.00001
NM_001201543.2(FAM161A):c.148GAG[2] (p.Glu52del) rs528451151
NM_001201543.2(FAM161A):c.149A>G (p.Glu50Gly) rs1673585446
NM_001201543.2(FAM161A):c.82G>A (p.Ala28Thr) rs550422472

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