ClinVar Miner

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

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 45
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HGVS dbSNP
NM_000076.2(CDKN1C):c.-84G>A rs188494894
NM_000076.2(CDKN1C):c.132C>T (p.Arg44=) rs149717696
NM_000076.2(CDKN1C):c.512_523delCTCCGGTCGCGG (p.Ala171_Ala174del) rs565544512
NM_000076.2(CDKN1C):c.549_554delCCCGGC (p.Ala193_Pro194del) rs878853629
NM_000076.2(CDKN1C):c.555T>C (p.Ala185=) rs191294997
NM_000076.2(CDKN1C):c.567_572delTCCGGC (p.Ala193_Pro194del) rs878853632
NM_000076.2(CDKN1C):c.600A>G (p.Pro200=) rs529326848
NM_000076.2(CDKN1C):c.600_605delAGCCCC (p.Ala215_Pro216del) rs1060503860
NM_000076.2(CDKN1C):c.600_611delAGCCCCGGCCCC (p.Ala213_Pro216del) rs878853634
NM_000076.2(CDKN1C):c.600_611dupAGCCCCGGCCCC (p.Pro216_Asp217insAlaProAlaPro) rs878853634
NM_000076.2(CDKN1C):c.600_617delAGCCCCGGCCCCGGCCCC (p.Ala211_Pro216del) rs878853636
NM_000076.2(CDKN1C):c.600_623delAGCCCCGGCCCCGGCCCCGGCCCC (p.Ala209_Pro216del) rs878853637
NM_000076.2(CDKN1C):c.618_629delGGCCCCGGCCCC (p.Ala213_Pro216del) rs759134767
NM_000076.2(CDKN1C):c.624_629delGGCCCC (p.Ala215_Pro216del) rs759134767
NM_000076.2(CDKN1C):c.624_629dupGGCCCC (p.Pro216_Asp217insAlaPro) rs759134767
NM_000076.2(CDKN1C):c.626_649delCCCCCGCCCCGGCCCCGGCCCCGG (p.Ala209_Pro216del) rs778468310
NM_000076.2(CDKN1C):c.669C>T (p.Ser223=) rs540923047
NM_000076.2(CDKN1C):c.708G>A (p.Glu236=) rs3741341
NM_000076.2(CDKN1C):c.72A>G (p.Leu24=) rs3852522
NM_000076.2(CDKN1C):c.735G>A (p.Gly245=) rs556682082
NM_022455.4(NSD1):c.1149C>T (p.Ile383=) rs34921128
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.1980C>T (p.Asn660=) rs140072393
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.3106G>C (p.Ala1036Pro) rs28932179
NM_022455.4(NSD1):c.3330C>T (p.Phe1110=) rs541077303
NM_022455.4(NSD1):c.339C>T (p.Cys113=) rs77093936
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.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.7350T>C (p.Asn2450=) rs200241618
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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