ClinVar Miner

List of variants reported as likely pathogenic for Smith-Magenis syndrome

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Total variants: 24
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HGVS dbSNP gnomAD frequency
NM_030665.4(RAI1):c.3208G>A (p.Gly1070Arg) rs370633684 0.00026
NM_004595.5(SMS):c.581T>G (p.Val194Gly)
NM_030665.4(RAI1):c.13C>T (p.Arg5Ter) rs2143001434
NM_030665.4(RAI1):c.1677del (p.Ser560fs)
NM_030665.4(RAI1):c.1774C>T (p.Arg592Trp)
NM_030665.4(RAI1):c.1930del (p.Glu644fs)
NM_030665.4(RAI1):c.1958_1959del (p.Val653fs) rs2032172594
NM_030665.4(RAI1):c.2238G>A (p.Trp746Ter) rs1598089943
NM_030665.4(RAI1):c.2521_2524del (p.Ser841fs)
NM_030665.4(RAI1):c.269del (p.Gly90fs)
NM_030665.4(RAI1):c.2763_2764del (p.Glu923fs)
NM_030665.4(RAI1):c.280_286del (p.Arg94fs)
NM_030665.4(RAI1):c.2903C>A (p.Ser968Ter)
NM_030665.4(RAI1):c.3293_3297del (p.Val1098fs)
NM_030665.4(RAI1):c.3534_3547del (p.Asp1179fs)
NM_030665.4(RAI1):c.3572del (p.Ser1191fs)
NM_030665.4(RAI1):c.367dup (p.Ala123fs)
NM_030665.4(RAI1):c.3997G>A (p.Val1333Met)
NM_030665.4(RAI1):c.5223del (p.Gly1742fs)
NM_030665.4(RAI1):c.5444_5448del (p.Pro1815fs) rs2143003540
NM_030665.4(RAI1):c.5600T>C (p.Ile1867Thr)
NM_030665.4(RAI1):c.5709+5G>C rs2143006568
NM_030665.4(RAI1):c.629C>G (p.Pro210Arg)
NM_030665.4(RAI1):c.859C>T (p.Gln287Ter) rs2032121558

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