ClinVar Miner

List of variants reported as benign for Beckwith-Wiedemann syndrome by Invitae

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Total variants: 52
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HGVS dbSNP
NM_000076.2(CDKN1C):c.-84G>A rs188494894
NM_001122630.2(CDKN1C):c.291C>T (p.Pro97=) rs534471786
NM_001122630.2(CDKN1C):c.39A>G (p.Leu13=) rs3852522
NM_001122630.2(CDKN1C):c.455_466CTCCGGTCGCGG[2] (p.152_155APVA[2]) rs565544512
NM_001122630.2(CDKN1C):c.495G>C (p.Ala165=) rs533485167
NM_001122630.2(CDKN1C):c.504_509CCCGGC[2] (p.168_169AP[7]) rs878853629
NM_001122630.2(CDKN1C):c.522T>C (p.Ala174=) rs191294997
NM_001122630.2(CDKN1C):c.522_527TCCGGC[2] (p.168_169AP[7]) rs878853632
NM_001122630.2(CDKN1C):c.567A>G (p.Pro189=) rs529326848
NM_001122630.2(CDKN1C):c.567_572del (p.186_187AP[9]) rs1060503860
NM_001122630.2(CDKN1C):c.567_578del (p.186_187AP[8]) rs878853634
NM_001122630.2(CDKN1C):c.567_578dup (p.186_187AP[12]) rs878853634
NM_001122630.2(CDKN1C):c.567_584del (p.186_187AP[7]) rs878853636
NM_001122630.2(CDKN1C):c.567_590del (p.186_187AP[6]) rs878853637
NM_001122630.2(CDKN1C):c.573_578GGCCCC[2] (p.186_187AP[8]) rs759134767
NM_001122630.2(CDKN1C):c.573_578GGCCCC[5] (p.186_187AP[11]) rs759134767
NM_001122630.2(CDKN1C):c.593_616del (p.186_187AP[6]) rs778468310
NM_001122630.2(CDKN1C):c.636C>T (p.Ser212=) rs540923047
NM_001122630.2(CDKN1C):c.675G>A (p.Glu225=) rs3741341
NM_001122630.2(CDKN1C):c.702G>A (p.Gly234=) rs556682082
NM_001122630.2(CDKN1C):c.99C>T (p.Arg33=) rs149717696
NM_022455.4(NSD1):c.1149C>T (p.Ile383=) rs34921128
NM_022455.4(NSD1):c.1317C>T (p.Asn439=) rs150421873
NM_022455.4(NSD1):c.1515T>C (p.Asn505=) rs114747882
NM_022455.4(NSD1):c.1690G>T (p.Ala564Ser) rs116520623
NM_022455.4(NSD1):c.1792T>C (p.Leu598=) rs28932176
NM_022455.4(NSD1):c.1811G>T (p.Arg604Leu) rs61744451
NM_022455.4(NSD1):c.2071G>A (p.Ala691Thr) rs28932177
NM_022455.4(NSD1):c.2169C>T (p.Thr723=) rs11948062
NM_022455.4(NSD1):c.2295C>T (p.Asn765=) rs146767413
NM_022455.4(NSD1):c.2339C>T (p.Ser780Leu) rs201327209
NM_022455.4(NSD1):c.2835T>C (p.Ser945=) rs145987330
NM_022455.4(NSD1):c.3000C>T (p.Ser1000=) rs150854966
NM_022455.4(NSD1):c.3106G>C (p.Ala1036Pro) rs28932179
NM_022455.4(NSD1):c.3187A>G (p.Thr1063Ala) rs193290006
NM_022455.4(NSD1):c.3330C>T (p.Phe1110=) rs541077303
NM_022455.4(NSD1):c.3393C>T (p.Asn1131=) rs150296373
NM_022455.4(NSD1):c.339C>T (p.Cys113=) rs77093936
NM_022455.4(NSD1):c.4162G>A (p.Glu1388Lys) rs1581408218
NM_022455.4(NSD1):c.4473G>T (p.Ser1491=) rs150920473
NM_022455.4(NSD1):c.4520C>T (p.Thr1507Met) rs144900277
NM_022455.4(NSD1):c.480C>T (p.Asp160=) rs79427433
NM_022455.4(NSD1):c.5712C>T (p.Pro1904=) rs756321444
NM_022455.4(NSD1):c.5781C>G (p.Ala1927=) rs61749654
NM_022455.4(NSD1):c.639C>T (p.Ser213=) rs755931458
NM_022455.4(NSD1):c.6750G>A (p.Met2250Ile) rs35848863
NM_022455.4(NSD1):c.6782T>C (p.Met2261Thr) rs34165241
NM_022455.4(NSD1):c.7275A>G (p.Leu2425=) rs139879749
NM_022455.4(NSD1):c.7575C>T (p.Asp2525=) rs148891711
NM_022455.4(NSD1):c.760C>T (p.Leu254Phe) rs149334244
NM_022455.4(NSD1):c.7636G>A (p.Ala2546Thr) rs78247455
NM_022455.4(NSD1):c.7908C>T (p.Leu2636=) rs143159630

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