ClinVar Miner

List of variants in gene NOTCH1 reported by Mayo Clinic Laboratories, Mayo Clinic

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Gene type:
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Total variants: 22
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HGVS dbSNP gnomAD frequency
NM_017617.5(NOTCH1):c.2734C>T (p.Arg912Trp) rs201620358 0.00223
NM_017617.5(NOTCH1):c.3835C>T (p.Arg1279Cys) rs182330532 0.00058
NM_017617.5(NOTCH1):c.1981G>A (p.Gly661Ser) rs201077220 0.00034
NM_017617.5(NOTCH1):c.3011C>T (p.Ser1004Leu) rs201163739 0.00016
NM_017617.5(NOTCH1):c.2636G>A (p.Arg879Gln) rs368011392 0.00010
NM_017617.5(NOTCH1):c.527G>A (p.Arg176Gln) rs375065108 0.00009
NM_017617.5(NOTCH1):c.4313G>A (p.Arg1438His) rs61751541 0.00008
NM_017617.5(NOTCH1):c.448G>A (p.Ala150Thr) rs372660483 0.00006
NM_017617.5(NOTCH1):c.6205G>A (p.Ala2069Thr) rs567909904 0.00005
NM_017617.5(NOTCH1):c.3980A>G (p.Asn1327Ser) rs751874720 0.00004
NM_017617.5(NOTCH1):c.6770C>T (p.Ala2257Val) rs377112509 0.00003
NM_017617.5(NOTCH1):c.7115G>A (p.Arg2372Gln) rs373119531 0.00003
NM_017617.5(NOTCH1):c.1215G>A (p.Thr405=) rs747864683 0.00001
NM_017617.5(NOTCH1):c.6542A>G (p.Lys2181Arg) rs746372139 0.00001
NM_017617.5(NOTCH1):c.6784G>A (p.Gly2262Ser) rs780071276 0.00001
NM_017617.5(NOTCH1):c.751G>A (p.Gly251Ser) rs755667439 0.00001
NM_017617.5(NOTCH1):c.2326G>T (p.Val776Leu) rs377286829
NM_017617.5(NOTCH1):c.2387C>T (p.Ala796Val)
NM_017617.5(NOTCH1):c.4325C>G (p.Pro1442Arg)
NM_017617.5(NOTCH1):c.6636C>A (p.Asp2212Glu) rs370606059
NM_017617.5(NOTCH1):c.751G>C (p.Gly251Arg)
NM_017617.5(NOTCH1):c.977dup (p.Trp327fs)

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