ClinVar Miner

List of variants in gene NOTCH2 reported as pathogenic for abdominal and pelvic region disorder

Included ClinVar conditions (913):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 27
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HGVS dbSNP
NM_024408.4(NOTCH2):c.1117T>C (p.Cys373Arg) rs312262793
NM_024408.4(NOTCH2):c.1147C>T (p.Pro383Ser) rs312262795
NM_024408.4(NOTCH2):c.1180C>T (p.Pro394Ser) rs312262794
NM_024408.4(NOTCH2):c.1331G>A (p.Cys444Tyr) rs111033632
NM_024408.4(NOTCH2):c.1438T>C (p.Cys480Arg) rs312262799
NM_024408.4(NOTCH2):c.2564_2565AG[1] (p.Ser856fs) rs312262800
NM_024408.4(NOTCH2):c.5222C>T (p.Ser1741Leu)
NM_024408.4(NOTCH2):c.5345del (p.Asp1782fs) rs1553193977
NM_024408.4(NOTCH2):c.5644C>T (p.His1882Tyr)
NM_024408.4(NOTCH2):c.5857C>T (p.Arg1953Cys) rs312262796
NM_024408.4(NOTCH2):c.5858G>A (p.Arg1953His) rs312262797
NM_024408.4(NOTCH2):c.5930-1G>A rs312262798
NM_024408.4(NOTCH2):c.6007C>T (p.Arg2003Ter) rs312262801
NM_024408.4(NOTCH2):c.6272del (p.Phe2091fs) rs1557802353
NM_024408.4(NOTCH2):c.6449_6450del (p.Pro2150fs) rs1553193574
NM_024408.4(NOTCH2):c.6503del (p.Pro2168fs) rs1557802165
NM_024408.4(NOTCH2):c.6622C>T (p.Gln2208Ter) rs387906746
NM_024408.4(NOTCH2):c.6853C>T (p.Gln2285Ter) rs1553193507
NM_024408.4(NOTCH2):c.6895G>T (p.Glu2299Ter) rs387906748
NM_024408.4(NOTCH2):c.6909del (p.Ile2304fs) rs771237928
NM_024408.4(NOTCH2):c.6909dup (p.Ile2304fs) rs771237928
NM_024408.4(NOTCH2):c.6949C>T (p.Gln2317Ter) rs387906747
NM_024408.4(NOTCH2):c.7078C>T (p.Gln2360Ter) rs1553193485
NM_024408.4(NOTCH2):c.7119T>G (p.Tyr2373Ter) rs1557801639
NM_024408.4(NOTCH2):c.7165C>T (p.Gln2389Ter) rs387906749
NM_024408.4(NOTCH2):c.7198C>T (p.Arg2400Ter) rs1325403451
NOTCH2, 1-BP DEL, 6460T

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