ClinVar Miner

List of variants reported as uncertain significance for Riley-Day syndrome by Counsyl

Included ClinVar conditions (1):
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Total variants: 24
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HGVS dbSNP
NM_003640.4(ELP1):c.2370_2372del (p.Glu790del) rs750344128
NM_003640.5(ELP1):c.-59_-56+15del rs993537831
NM_003640.5(ELP1):c.1614G>C (p.Met538Ile) rs749608070
NM_003640.5(ELP1):c.1705_1707GTA[1] (p.Val570del) rs1554697136
NM_003640.5(ELP1):c.1775_1780del (p.Pro592_Lys594delinsGln) rs749959888
NM_003640.5(ELP1):c.1941_1943TGA[1] (p.Asp648del) rs1554696595
NM_003640.5(ELP1):c.1973A>G (p.His658Arg) rs372151936
NM_003640.5(ELP1):c.1982_1993del (p.Gln661_Cys664del) rs1554696580
NM_003640.5(ELP1):c.2308_2310del (p.Phe770del) rs1554695751
NM_003640.5(ELP1):c.2398_2400dup (p.Pro800dup) rs1358881100
NM_003640.5(ELP1):c.2992_3003del (p.Gln998_Met1001del) rs1376166738
NM_003640.5(ELP1):c.3358_3360dup (p.Tyr1120dup) rs1554691848
NM_003640.5(ELP1):c.3397C>T (p.Arg1133Cys) rs372499865
NM_003640.5(ELP1):c.3469G>A (p.Val1157Ile) rs886063346
NM_003640.5(ELP1):c.3573-7C>G rs370571926
NM_003640.5(ELP1):c.3590G>A (p.Arg1197His) rs886063345
NM_003640.5(ELP1):c.3622_3624del (p.Lys1208del) rs1453695293
NM_003640.5(ELP1):c.3701-6C>G rs148535504
NM_003640.5(ELP1):c.3784dup (p.Thr1262fs) rs1554691544
NM_003640.5(ELP1):c.3917C>A (p.Ser1306Ter) rs780649768
NM_003640.5(ELP1):c.3937G>T (p.Glu1313Ter) rs1554735745
NM_003640.5(ELP1):c.3977G>A (p.Trp1326Ter) rs1554735724
NM_003640.5(ELP1):c.552+2dup rs1554702145
NM_003640.5(ELP1):c.818_829del (p.Leu273_Gly276del) rs1554700891

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