ClinVar Miner

List of variants in gene NOTCH1 reported as pathogenic for Adams-Oliver syndrome 5

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Total variants: 22
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HGVS dbSNP
NM_017617.4(NOTCH1):c.6049_6050delTC (p.Ser2017Thrfs) rs864622063
NM_017617.5(NOTCH1):c.1285T>C (p.Cys429Arg) rs587777736
NM_017617.5(NOTCH1):c.1343G>A (p.Arg448Gln) rs864622056
NM_017617.5(NOTCH1):c.1396del (p.Thr466Profs)
NM_017617.5(NOTCH1):c.1649dup (p.Tyr550Terfs) rs864622059
NM_017617.5(NOTCH1):c.1669+5G>A rs771590616
NM_017617.5(NOTCH1):c.1935_1936del (p.Ala646Glnfs) rs1554729443
NM_017617.5(NOTCH1):c.2365C>T (p.Gln789Ter) rs1554729118
NM_017617.5(NOTCH1):c.2380G>T (p.Glu794Ter) rs1554729113
NM_017617.5(NOTCH1):c.2704C>T (p.Arg902Cys) rs1448345366
NM_017617.5(NOTCH1):c.3266G>A (p.Trp1089Ter) rs1554728428
NM_017617.5(NOTCH1):c.3281G>A (p.Cys1094Tyr) rs1554728424
NM_017617.5(NOTCH1):c.4071C>A (p.Cys1357Ter)
NM_017617.5(NOTCH1):c.4120T>C (p.Cys1374Arg) rs864622060
NM_017617.5(NOTCH1):c.415C>T (p.Gln139Ter) rs1554730670
NM_017617.5(NOTCH1):c.4222G>T (p.Glu1408Ter) rs587778569
NM_017617.5(NOTCH1):c.4487G>A (p.Cys1496Tyr) rs587781259
NM_017617.5(NOTCH1):c.4663G>T (p.Glu1555Ter) rs746342893
NM_017617.5(NOTCH1):c.4739dup (p.Met1580Ilefs) rs864622061
NM_017617.5(NOTCH1):c.5965G>A (p.Asp1989Asn) rs587777734
NM_017617.5(NOTCH1):c.743-1G>T rs587777735
NM_017617.5(NOTCH1):c.794_797delACTGinsCC (p.Asn265Thrfs) rs1554730184

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