ClinVar Miner

List of variants in gene RAI1 reported as uncertain significance for Smith-Magenis syndrome

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Total variants: 57
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HGVS dbSNP gnomAD frequency
NM_030665.4(RAI1):c.3208G>A (p.Gly1070Arg) rs370633684 0.00026
NM_030665.4(RAI1):c.109G>A (p.Gly37Arg) rs201393598 0.00024
NM_030665.4(RAI1):c.3589G>C (p.Gly1197Arg) rs200719553 0.00024
NM_030665.4(RAI1):c.5653G>A (p.Asp1885Asn) rs147844401 0.00014
NM_030665.4(RAI1):c.3883C>T (p.Pro1295Ser) rs372337877 0.00009
NM_030665.4(RAI1):c.2594T>C (p.Leu865Pro) rs138173790 0.00006
NM_030665.4(RAI1):c.3895G>A (p.Asp1299Asn) rs750911924 0.00006
NM_030665.4(RAI1):c.5528T>C (p.Phe1843Ser) rs145732429 0.00006
NM_030665.4(RAI1):c.2200G>A (p.Ala734Thr) rs780371904 0.00004
NM_030665.4(RAI1):c.4849C>T (p.Pro1617Ser) rs767535015 0.00004
NM_030665.4(RAI1):c.1787G>A (p.Arg596Gln) rs200001615 0.00003
NM_030665.4(RAI1):c.817C>T (p.Arg273Cys) rs758637644 0.00003
NM_030665.4(RAI1):c.239G>A (p.Arg80Gln) rs372896387 0.00002
NM_030665.4(RAI1):c.3146C>T (p.Ser1049Leu) rs755152385 0.00002
NM_030665.4(RAI1):c.3590G>T (p.Gly1197Val) rs368975225 0.00002
NM_030665.4(RAI1):c.4051G>T (p.Ala1351Ser) rs778842491 0.00002
NM_030665.4(RAI1):c.458C>T (p.Pro153Leu) rs1468262694 0.00002
NM_030665.4(RAI1):c.5225G>T (p.Gly1742Val) rs558768145 0.00002
NM_030665.4(RAI1):c.1471G>A (p.Glu491Lys) rs527757515 0.00001
NM_030665.4(RAI1):c.226G>A (p.Asp76Asn) rs936181213 0.00001
NM_030665.4(RAI1):c.3401C>T (p.Pro1134Leu) rs2032247780 0.00001
NM_030665.4(RAI1):c.4114G>A (p.Gly1372Arg) rs149839441 0.00001
NM_030665.4(RAI1):c.454C>A (p.Pro152Thr) rs755899326 0.00001
NM_030665.4(RAI1):c.4963G>A (p.Gly1655Ser) rs794727522 0.00001
NM_030665.4(RAI1):c.514C>T (p.His172Tyr) rs143161740 0.00001
NM_030665.4(RAI1):c.1190A>G (p.Asn397Ser)
NM_030665.4(RAI1):c.1618G>T (p.Ala540Ser)
NM_030665.4(RAI1):c.1658T>C (p.Val553Ala)
NM_030665.4(RAI1):c.1748G>A (p.Ser583Asn) rs1057519065
NM_030665.4(RAI1):c.1777G>T (p.Asp593Tyr)
NM_030665.4(RAI1):c.1801G>A (p.Ala601Thr) rs1170875285
NM_030665.4(RAI1):c.1888C>G (p.Pro630Ala) rs1184373480
NM_030665.4(RAI1):c.2404_2406del (p.Lys802del) rs779691871
NM_030665.4(RAI1):c.242G>A (p.Gly81Asp)
NM_030665.4(RAI1):c.2468G>A (p.Gly823Asp)
NM_030665.4(RAI1):c.265C>G (p.Gln89Glu) rs2032087603
NM_030665.4(RAI1):c.274C>A (p.Gln92Lys)
NM_030665.4(RAI1):c.282G>T (p.Arg94Ser)
NM_030665.4(RAI1):c.2918C>G (p.Ala973Gly) rs2032220904
NM_030665.4(RAI1):c.3168T>G (p.Cys1056Trp) rs2143002559
NM_030665.4(RAI1):c.3272C>A (p.Ala1091Asp) rs2143002601
NM_030665.4(RAI1):c.3649C>T (p.Arg1217Trp) rs898986244
NM_030665.4(RAI1):c.3660T>A (p.His1220Gln) rs745379131
NM_030665.4(RAI1):c.3731GCA[7] (p.Ser1249dup) rs760919336
NM_030665.4(RAI1):c.3925G>C (p.Ala1309Pro)
NM_030665.4(RAI1):c.424G>T (p.Asp142Tyr) rs2032095988
NM_030665.4(RAI1):c.4415C>G (p.Ala1472Gly)
NM_030665.4(RAI1):c.4462A>G (p.Ser1488Gly)
NM_030665.4(RAI1):c.4463G>T (p.Ser1488Ile)
NM_030665.4(RAI1):c.4523_4546del (p.Ser1508_Pro1515del)
NM_030665.4(RAI1):c.4967C>G (p.Ser1656Cys) rs774532013
NM_030665.4(RAI1):c.4984C>T (p.Pro1662Ser)
NM_030665.4(RAI1):c.5407C>G (p.Arg1803Gly)
NM_030665.4(RAI1):c.5516C>T (p.Ala1839Val)
NM_030665.4(RAI1):c.5554G>A (p.Ala1852Thr)
NM_030665.4(RAI1):c.5698C>G (p.Pro1900Ala) rs1039699590
NM_030665.4(RAI1):c.619A>T (p.Thr207Ser) rs1434136369

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