ClinVar Miner

List of variants studied for Smith-Magenis syndrome

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Total variants: 141
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HGVS dbSNP gnomAD frequency
NM_030665.4(RAI1):c.1992G>A (p.Pro664=) rs8067439 0.58185
NM_030665.4(RAI1):c.269G>C (p.Gly90Ala) rs3803763 0.43727
NM_030665.4(RAI1):c.5601T>C (p.Ile1867=) rs3818717 0.42485
NM_030665.4(RAI1):c.493C>A (p.Pro165Thr) rs11649804 0.35747
NM_030665.4(RAI1):c.840del (p.Gln280fs) rs34083643 0.35741
NM_030665.4(RAI1):c.4311T>C (p.Pro1437=) rs4925112 0.11504
NM_030665.4(RAI1):c.4530C>T (p.Pro1510=) rs35686634 0.09361
NM_030665.4(RAI1):c.1894C>T (p.Leu632=) rs61736754 0.01318
NM_030665.4(RAI1):c.1044C>T (p.Arg348=) rs142316059 0.00634
NM_030665.4(RAI1):c.4512G>T (p.Leu1504=) rs117995220 0.00559
NM_030665.4(RAI1):c.2907C>T (p.Asp969=) rs141757356 0.00492
NM_030665.4(RAI1):c.1142C>T (p.Ala381Val) rs113208290 0.00400
NM_030665.4(RAI1):c.725C>T (p.Pro242Leu) rs150563155 0.00220
NM_030665.4(RAI1):c.840_843del (p.Gln280fs) rs775735568 0.00094
NM_030665.4(RAI1):c.3650G>A (p.Arg1217Gln) rs142415050 0.00063
NM_030665.4(RAI1):c.4317G>T (p.Gly1439=) rs572421943 0.00047
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.4295C>T (p.Pro1432Leu) rs201405375 0.00019
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.1882G>A (p.Glu628Lys) rs371291565 0.00006
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.3478C>T (p.Arg1160Trp) rs761044841 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.4911G>A (p.Ser1637=) rs756222196 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
GRCh37/hg19 17p11.2(chr17:16651292-20286898)
GRCh37/hg19 17p11.2(chr17:16842991-20217316)
GRCh37/hg19 17p11.2(chr17:17145361-20137943)
GRCh37/hg19 17p11.2(chr17:17151140-20187953)
NM_004595.5(SMS):c.581T>G (p.Val194Gly)
NM_030665.4(RAI1):c.-148-13952_-148-10583del
NM_030665.4(RAI1):c.1069_1070insC (p.Ser357fs) rs1598088235
NM_030665.4(RAI1):c.116G>T (p.Ser39Ile) rs2143001466
NM_030665.4(RAI1):c.13C>T (p.Arg5Ter) rs2143001434
NM_030665.4(RAI1):c.1449del (p.Glu484fs)
NM_030665.4(RAI1):c.1618G>T (p.Ala540Ser)
NM_030665.4(RAI1):c.1658T>C (p.Val553Ala)
NM_030665.4(RAI1):c.1677del (p.Ser560fs)
NM_030665.4(RAI1):c.1748G>A (p.Ser583Asn) rs1057519065
NM_030665.4(RAI1):c.1774C>T (p.Arg592Trp)
NM_030665.4(RAI1):c.1777G>T (p.Asp593Tyr)
NM_030665.4(RAI1):c.1785dup (p.Arg596fs)
NM_030665.4(RAI1):c.1801G>A (p.Ala601Thr) rs1170875285
NM_030665.4(RAI1):c.1810C>T (p.Gln604Ter)
NM_030665.4(RAI1):c.1888C>G (p.Pro630Ala) rs1184373480
NM_030665.4(RAI1):c.1930del (p.Glu644fs)
NM_030665.4(RAI1):c.1958_1959del (p.Val653fs) rs2032172594
NM_030665.4(RAI1):c.219_226del (p.Ala74fs)
NM_030665.4(RAI1):c.2238G>A (p.Trp746Ter) rs1598089943
NM_030665.4(RAI1):c.2273G>A (p.Trp758Ter) rs527236033
NM_030665.4(RAI1):c.2329del (p.Asp777fs)
NM_030665.4(RAI1):c.2396dup (p.Gly800fs) rs2032191929
NM_030665.4(RAI1):c.242G>A (p.Gly81Asp)
NM_030665.4(RAI1):c.2468G>A (p.Gly823Asp)
NM_030665.4(RAI1):c.2472dup (p.Leu825fs) rs1555565492
NM_030665.4(RAI1):c.2521_2524del (p.Ser841fs)
NM_030665.4(RAI1):c.253_271del (p.Leu85fs)
NM_030665.4(RAI1):c.265C>G (p.Gln89Glu) rs2032087603
NM_030665.4(RAI1):c.269del (p.Gly90fs)
NM_030665.4(RAI1):c.274C>A (p.Gln92Lys)
NM_030665.4(RAI1):c.2763_2764del (p.Glu923fs)
NM_030665.4(RAI1):c.2773_2801del (p.Val925fs)
NM_030665.4(RAI1):c.2809_2830delinsCACATGAAG (p.Lys937fs)
NM_030665.4(RAI1):c.280_286del (p.Arg94fs)
NM_030665.4(RAI1):c.282G>T (p.Arg94Ser)
NM_030665.4(RAI1):c.2903C>A (p.Ser968Ter)
NM_030665.4(RAI1):c.2918C>G (p.Ala973Gly) rs2032220904
NM_030665.4(RAI1):c.2966_2969del (p.Lys989fs) rs1135401792
NM_030665.4(RAI1):c.3168T>G (p.Cys1056Trp) rs2143002559
NM_030665.4(RAI1):c.3179_3180del (p.Leu1060fs) rs2032234525
NM_030665.4(RAI1):c.3192_3195del (p.Glu1065fs) rs1598091391
NM_030665.4(RAI1):c.3251_3252del (p.Leu1084fs)
NM_030665.4(RAI1):c.3272C>A (p.Ala1091Asp) rs2143002601
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.3649C>T (p.Arg1217Trp) rs898986244
NM_030665.4(RAI1):c.3660T>A (p.His1220Gln) rs745379131
NM_030665.4(RAI1):c.367dup (p.Ala123fs)
NM_030665.4(RAI1):c.3731GCA[3] (p.Ser1247_Ser1249del) rs760919336
NM_030665.4(RAI1):c.3731GCA[7] (p.Ser1249dup) rs760919336
NM_030665.4(RAI1):c.3760A>G (p.Asn1254Asp) rs2032268470
NM_030665.4(RAI1):c.3778GAG[1] (p.Glu1261del) rs149716029
NM_030665.4(RAI1):c.3801del (p.Thr1268fs) rs1598092236
NM_030665.4(RAI1):c.3925G>C (p.Ala1309Pro)
NM_030665.4(RAI1):c.3997G>A (p.Val1333Met)
NM_030665.4(RAI1):c.424G>T (p.Asp142Tyr) rs2032095988
NM_030665.4(RAI1):c.4271del (p.Phe1424fs) rs2143002950
NM_030665.4(RAI1):c.4317dup (p.Thr1440fs)
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.4525del (p.Gln1509fs) rs2143003068
NM_030665.4(RAI1):c.4673dup (p.Arg1559fs) rs1555566042
NM_030665.4(RAI1):c.4681C>T (p.Arg1561Ter) rs750728463
NM_030665.4(RAI1):c.4685A>G (p.Gln1562Arg) rs104894634
NM_030665.4(RAI1):c.4814del (p.Asp1605fs) rs1598093659
NM_030665.4(RAI1):c.4967C>G (p.Ser1656Cys) rs774532013
NM_030665.4(RAI1):c.4984C>T (p.Pro1662Ser)
NM_030665.4(RAI1):c.5223del (p.Gly1742fs)
NM_030665.4(RAI1):c.5265del (p.Arg1756fs)
NM_030665.4(RAI1):c.5407C>G (p.Arg1803Gly)
NM_030665.4(RAI1):c.5423G>A (p.Ser1808Asn) rs104894633
NM_030665.4(RAI1):c.5444_5448del (p.Pro1815fs) rs2143003540
NM_030665.4(RAI1):c.545C>T (p.Pro182Leu) rs1260037619
NM_030665.4(RAI1):c.5516C>T (p.Ala1839Val)
NM_030665.4(RAI1):c.5554G>A (p.Ala1852Thr)
NM_030665.4(RAI1):c.5600T>C (p.Ile1867Thr)
NM_030665.4(RAI1):c.5626dup (p.His1876fs)
NM_030665.4(RAI1):c.5698C>G (p.Pro1900Ala) rs1039699590
NM_030665.4(RAI1):c.5709+5G>C rs2143006568
NM_030665.4(RAI1):c.619A>T (p.Thr207Ser) rs1434136369
NM_030665.4(RAI1):c.629C>G (p.Pro210Arg)
NM_030665.4(RAI1):c.707A>G (p.Tyr236Cys) rs780157776
NM_030665.4(RAI1):c.834GCA[12] (p.Gln291del) rs371983878
NM_030665.4(RAI1):c.848_851del (p.Gln283fs)
NM_030665.4(RAI1):c.859C>T (p.Gln287Ter) rs2032121558
NM_030665.4(RAI1):c.868C>T (p.Gln290Ter) rs771803841
Single allele
chr17:g.(AC027266_AL353996)_(AC015726-AC087393)del

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