ClinVar Miner

List of variants studied for Beckwith-Wiedemann syndrome by Baylor Genetics

Included ClinVar conditions (7):
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Total variants: 48
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HGVS dbSNP gnomAD frequency
NM_001122630.2(CDKN1C):c.319C>G (p.Pro107Ala) rs772684721 0.00023
NM_001122630.2(CDKN1C):c.-10-5C>T rs374634184 0.00013
NM_001122630.2(CDKN1C):c.458C>T (p.Pro153Leu) rs1315960524 0.00006
NM_001122630.2(CDKN1C):c.316C>T (p.Pro106Ser) rs570636789 0.00004
NM_001122630.2(CDKN1C):c.317C>G (p.Pro106Arg) rs945890937 0.00003
NM_001122630.2(CDKN1C):c.17C>T (p.Ala6Val) rs1477196859 0.00002
NM_001122630.2(CDKN1C):c.611C>A (p.Ala204Asp) rs1060500176 0.00002
NM_001122630.2(CDKN1C):c.827C>T (p.Ser276Leu) rs928007699 0.00002
NM_001122630.2(CDKN1C):c.130G>T (p.Ala44Ser) rs1013973901 0.00001
NM_001122630.2(CDKN1C):c.232G>A (p.Ala78Thr) rs1177512372 0.00001
NM_001122630.2(CDKN1C):c.314G>T (p.Ser105Ile) rs1197769841 0.00001
NM_001122630.2(CDKN1C):c.322C>T (p.Leu108Phe) rs1323156745 0.00001
NM_001122630.2(CDKN1C):c.364C>T (p.Pro122Ser) rs1192914687 0.00001
NM_001122630.2(CDKN1C):c.365C>T (p.Pro122Leu) rs1590150577 0.00001
NM_001122630.2(CDKN1C):c.578C>T (p.Pro193Leu) rs2583440 0.00001
NM_001122630.2(CDKN1C):c.676C>T (p.Pro226Ser) rs1240280374 0.00001
NM_001122630.2(CDKN1C):c.679C>T (p.Leu227Phe) rs878853640 0.00001
NM_001122630.2(CDKN1C):c.737C>G (p.Ala246Gly) rs878853642 0.00001
NM_001122630.2(CDKN1C):c.742G>T (p.Ala248Ser) rs773881541 0.00001
NM_001122630.2(CDKN1C):c.769T>A (p.Ser257Thr) rs781340171 0.00001
NM_001122630.2(CDKN1C):c.*5+1G>A
NM_001122630.2(CDKN1C):c.136G>A (p.Asp46Asn)
NM_001122630.2(CDKN1C):c.254A>G (p.Gln85Arg) rs1220704341
NM_001122630.2(CDKN1C):c.272T>A (p.Leu91Gln)
NM_001122630.2(CDKN1C):c.274C>G (p.Leu92Val) rs1416112498
NM_001122630.2(CDKN1C):c.284C>G (p.Pro95Arg)
NM_001122630.2(CDKN1C):c.289_304del (p.Pro97fs)
NM_001122630.2(CDKN1C):c.346G>A (p.Asp116Asn)
NM_001122630.2(CDKN1C):c.355G>C (p.Glu119Gln)
NM_001122630.2(CDKN1C):c.380G>C (p.Ser127Thr)
NM_001122630.2(CDKN1C):c.407C>A (p.Thr136Asn) rs1848955065
NM_001122630.2(CDKN1C):c.410C>A (p.Pro137Gln) rs754671425
NM_001122630.2(CDKN1C):c.410C>G (p.Pro137Arg)
NM_001122630.2(CDKN1C):c.431C>T (p.Ala144Val) rs1848952463
NM_001122630.2(CDKN1C):c.439C>G (p.Pro147Ala) rs483352981
NM_001122630.2(CDKN1C):c.43C>G (p.Arg15Gly) rs765255367
NM_001122630.2(CDKN1C):c.449_460del (p.144AP[3])
NM_001122630.2(CDKN1C):c.476_477del (p.Ala159fs)
NM_001122630.2(CDKN1C):c.626C>T (p.Pro209Leu) rs763289302
NM_001122630.2(CDKN1C):c.650C>T (p.Ala217Val)
NM_001122630.2(CDKN1C):c.664C>T (p.Arg222Cys)
NM_001122630.2(CDKN1C):c.719C>T (p.Ala240Val) rs765542916
NM_001122630.2(CDKN1C):c.74C>T (p.Pro25Leu)
NM_001122630.2(CDKN1C):c.835G>A (p.Asp279Asn) rs1352481541
NM_001122630.2(CDKN1C):c.868G>T (p.Ala290Ser) rs749702191
NM_001122630.2(CDKN1C):c.901C>T (p.Arg301Cys)
NM_001122630.2(CDKN1C):c.913C>T (p.Arg305Trp) rs2133779874
NM_001122630.2(CDKN1C):c.98G>T (p.Arg33Leu) rs1477382841

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