ClinVar Miner

List of variants reported as benign for Riley-Day syndrome

Included ClinVar conditions (1):
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Total variants: 33
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HGVS dbSNP
NM_003640.5(ELP1):c.*1071G>A rs41305457
NM_003640.5(ELP1):c.*1259C>G rs13299652
NM_003640.5(ELP1):c.*1260C>T rs13299651
NM_003640.5(ELP1):c.*1351C>A rs4978371
NM_003640.5(ELP1):c.*392A>G rs10979577
NM_003640.5(ELP1):c.*861T>G rs74671462
NM_003640.5(ELP1):c.-126T>G rs2275640
NM_003640.5(ELP1):c.-301C>G rs2275641
NM_003640.5(ELP1):c.-71G>C rs2275639
NM_003640.5(ELP1):c.1574G>A (p.Arg525Gln) rs838827
NM_003640.5(ELP1):c.1721C>T (p.Ala574Val) rs35455790
NM_003640.5(ELP1):c.1758T>G (p.Pro586=) rs35054425
NM_003640.5(ELP1):c.189C>T (p.Leu63=) rs2230786
NM_003640.5(ELP1):c.1926G>A (p.Thr642=) rs10979605
NM_003640.5(ELP1):c.1965C>T (p.Thr655=) rs2230791
NM_003640.5(ELP1):c.2294G>A (p.Gly765Glu) rs2230792
NM_003640.5(ELP1):c.2446A>C (p.Ile816Leu) rs2230793
NM_003640.5(ELP1):c.2490A>G (p.Ile830Met) rs2230794
NM_003640.5(ELP1):c.2587+14C>T rs141670242
NM_003640.5(ELP1):c.2855A>T (p.Lys952Ile) rs2230798
NM_003640.5(ELP1):c.3037G>A (p.Gly1013Ser) rs2230795
NM_003640.5(ELP1):c.3069G>C (p.Leu1023=) rs1063110
NM_003640.5(ELP1):c.3214T>A (p.Cys1072Ser) rs3204145
NM_003640.5(ELP1):c.3285+9C>T rs2275495
NM_003640.5(ELP1):c.3473C>T (p.Pro1158Leu) rs1538660
NM_003640.5(ELP1):c.3492C>T (p.Asp1164=) rs79596285
NM_003640.5(ELP1):c.3876T>G (p.Thr1292=) rs61749202
NM_003640.5(ELP1):c.441G>A (p.Gln147=) rs2230788
NM_003640.5(ELP1):c.545T>A (p.Met182Lys) rs10521092
NM_003640.5(ELP1):c.751A>G (p.Ser251Gly) rs17853166
NM_003640.5(ELP1):c.819C>T (p.Leu273=) rs12340246
NM_003640.5(ELP1):c.934G>A (p.Glu312Lys) rs1140064
NM_003640.5(ELP1):c.959-15C>T rs112114410

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