ClinVar Miner

List of variants studied for advanced sleep phase syndrome

Included ClinVar conditions (4):
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Total variants: 15
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HGVS dbSNP gnomAD frequency
NM_001377275.1(PER3):c.1243C>G (p.Pro415Ala) rs150812083 0.00511
NM_001377275.1(PER3):c.1250A>G (p.His417Arg) rs139315125 0.00511
NM_001377275.1(PER3):c.3550-1G>A rs772840416 0.00004
NM_001893.6(CSNK1D):c.130A>G (p.Thr44Ala) rs104894561 0.00001
NM_001289862.1(PER3):c.[1243C>G;1250A>G]
NM_001893.6(CSNK1D):c.137A>G (p.His46Arg) rs397514693
NM_003920.5(TIMELESS):c.2515G>A (p.Asp839Asn)
NM_022817.3(PER2):c.1202G>A (p.Arg401His)
NM_022817.3(PER2):c.14C>G (p.Ala5Gly)
NM_022817.3(PER2):c.1984A>G (p.Ser662Gly) rs121908635
NM_022817.3(PER2):c.2542G>A (p.Ala848Thr)
NM_022817.3(PER2):c.293+1G>T
NM_022817.3(PER2):c.2963C>T (p.Pro988Leu) rs1559323041
NM_022817.3(PER2):c.3376C>T (p.His1126Tyr)
NM_022817.3(PER2):c.595del (p.Leu199fs) rs1559332542

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