ClinVar Miner

List of variants in gene combination LOC126860794, NOTCH1 reported as uncertain significance by Labcorp Genetics (formerly Invitae), Labcorp

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Gene type:
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Total variants: 28
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HGVS dbSNP gnomAD frequency
NM_017617.5(NOTCH1):c.5987C>T (p.Thr1996Met) rs773137647 0.00001
NM_017617.5(NOTCH1):c.6025G>A (p.Gly2009Ser) rs1842960316 0.00001
NM_017617.5(NOTCH1):c.6067G>A (p.Ala2023Thr) rs1181025067 0.00001
NM_017617.5(NOTCH1):c.6082+3G>A rs1402431855 0.00001
NM_017617.5(NOTCH1):c.6082+6C>T rs1842959338 0.00001
NM_017617.5(NOTCH1):c.6119A>G (p.Asn2040Ser) rs780257585 0.00001
NM_017617.5(NOTCH1):c.6180+6C>T rs577581469 0.00001
NM_017617.5(NOTCH1):c.5965G>C (p.Asp1989His) rs587777734
NM_017617.5(NOTCH1):c.6000C>G (p.Ile2000Met) rs773987257
NM_017617.5(NOTCH1):c.6010C>T (p.Arg2004Cys) rs1589054589
NM_017617.5(NOTCH1):c.6011G>A (p.Arg2004His)
NM_017617.5(NOTCH1):c.6026G>A (p.Gly2009Asp) rs1842960290
NM_017617.5(NOTCH1):c.6029T>C (p.Met2010Thr) rs2133322772
NM_017617.5(NOTCH1):c.6082+5G>A rs1280026920
NM_017617.5(NOTCH1):c.6082+6C>G rs1842959338
NM_017617.5(NOTCH1):c.6083-3C>T rs770358205
NM_017617.5(NOTCH1):c.6100T>C (p.Trp2034Arg) rs1554826698
NM_017617.5(NOTCH1):c.6109G>T (p.Ala2037Ser) rs1060502237
NM_017617.5(NOTCH1):c.6116A>G (p.Asn2039Ser) rs2133321785
NM_017617.5(NOTCH1):c.6130G>T (p.Ala2044Ser) rs544856644
NM_017617.5(NOTCH1):c.6137T>C (p.Val2046Ala) rs1374171839
NM_017617.5(NOTCH1):c.6147G>C (p.Lys2049Asn) rs2133321599
NM_017617.5(NOTCH1):c.6152G>C (p.Gly2051Ala) rs1589054356
NM_017617.5(NOTCH1):c.6154G>T (p.Ala2052Ser)
NM_017617.5(NOTCH1):c.6157A>G (p.Asn2053Asp) rs1474607963
NM_017617.5(NOTCH1):c.6175A>G (p.Asn2059Asp) rs1454265367
NM_017617.5(NOTCH1):c.6180+1G>T rs1842955649
NM_017617.5(NOTCH1):c.6180+3G>T rs371301632

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