ClinVar Miner

List of variants reported as likely pathogenic for Beckwith-Wiedemann syndrome

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 29
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HGVS dbSNP gnomAD frequency
NM_000218.3(KCNQ1):c.1747C>T (p.Arg583Cys) rs17221854 0.00002
NM_000218.3(KCNQ1):c.520C>T (p.Arg174Cys) rs199472696 0.00001
NM_000218.3(KCNQ1):c.604G>A (p.Asp202Asn) rs199472702 0.00001
NM_000218.3(KCNQ1):c.815G>A (p.Gly272Asp) rs199472726 0.00001
NM_000218.3(KCNQ1):c.1265dup (p.Phe423fs) rs397508083
NM_000218.3(KCNQ1):c.1697C>T (p.Ser566Phe) rs199472804
NM_000218.3(KCNQ1):c.1702G>A (p.Gly568Arg) rs199472807
NM_000218.3(KCNQ1):c.1892_1911del (p.Pro631fs) rs397508103
NM_000218.3(KCNQ1):c.200_210del (p.Pro67fs) rs1435990592
NM_000218.3(KCNQ1):c.797T>C (p.Leu266Pro) rs199473460
NM_000218.3(KCNQ1):c.998_999del (p.Ser333fs) rs397508134
NM_000612.6(IGF2):c.100G>T (p.Gly34Cys) rs1858937359
NM_001122630.2(CDKN1C):c.100G>A (p.Glu34Lys) rs1848977184
NM_001122630.2(CDKN1C):c.19del (p.Arg7fs)
NM_001122630.2(CDKN1C):c.289_292del (p.Pro97fs)
NM_001122630.2(CDKN1C):c.289_304del (p.Pro97fs)
NM_001122630.2(CDKN1C):c.334_352del (p.Ala112fs) rs1848960369
NM_001122630.2(CDKN1C):c.476_477del (p.Ala159fs)
NM_001122630.2(CDKN1C):c.771_786del (p.Gly258fs) rs1848915004
NM_001122630.2(CDKN1C):c.786del (p.Asp263fs) rs1848914894
NM_001122630.2(CDKN1C):c.802del (p.Arg268fs)
NM_001122630.2(CDKN1C):c.872del (p.Pro291fs) rs483352997
NM_022455.5(NSD1):c.2350C>T (p.Gln784Ter) rs374740802
NM_022455.5(NSD1):c.4766-1G>A rs1756517678
NM_022455.5(NSD1):c.5276T>C (p.Ile1759Thr) rs1060501498
NM_022455.5(NSD1):c.5410T>A (p.Tyr1804Asn) rs1581497686
NM_022455.5(NSD1):c.6014G>A (p.Arg2005Gln) rs587784174
NM_022455.5(NSD1):c.6089A>C (p.Gln2030Pro) rs1554204952
NM_022455.5(NSD1):c.6366T>G (p.Phe2122Leu) rs1562305653

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