ClinVar Miner

List of variants reported as likely benign for Alagille syndrome due to a NOTCH2 point mutation by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 43
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HGVS dbSNP gnomAD frequency
NM_024408.4(NOTCH2):c.4311C>T (p.Gly1437=) rs34561092 0.00733
NM_024408.4(NOTCH2):c.1567+12C>T rs78223268 0.00306
NM_024408.4(NOTCH2):c.7042T>C (p.Leu2348=) rs61734328 0.00241
NM_024408.4(NOTCH2):c.1568-17C>T rs373665797 0.00198
NM_024408.4(NOTCH2):c.6223G>A (p.Val2075Met) rs150516342 0.00141
NM_024408.4(NOTCH2):c.1108+14G>A rs377649578 0.00098
NM_024408.4(NOTCH2):c.2752+17G>C rs370708756 0.00066
NM_024408.4(NOTCH2):c.2981+11A>G rs148899572 0.00063
NM_024408.4(NOTCH2):c.7140G>C (p.Val2380=) rs150785478 0.00051
NM_024408.4(NOTCH2):c.7086C>T (p.Asp2362=) rs150657714 0.00029
NM_024408.4(NOTCH2):c.6997G>C (p.Ala2333Pro) rs143506822 0.00021
NM_024408.4(NOTCH2):c.6486C>T (p.Ser2162=) rs372865598 0.00018
NM_024408.4(NOTCH2):c.2480-4C>G rs201770901 0.00016
NM_024408.4(NOTCH2):c.6362A>G (p.Lys2121Arg) rs148393324 0.00013
NM_024408.4(NOTCH2):c.1681+9C>A rs192886452 0.00009
NM_024408.4(NOTCH2):c.2785G>A (p.Gly929Arg) rs199585130 0.00009
NM_024408.4(NOTCH2):c.3912C>T (p.Phe1304=) rs764301517 0.00007
NM_024408.4(NOTCH2):c.1803C>T (p.Gly601=) rs377566312 0.00006
NM_024408.4(NOTCH2):c.3462G>A (p.Ala1154=) rs146593279 0.00006
NM_024408.4(NOTCH2):c.1109-12A>C rs782601589 0.00004
NM_024408.4(NOTCH2):c.1158G>A (p.Lys386=) rs781863099 0.00004
NM_024408.4(NOTCH2):c.5217T>C (p.Asn1739=) rs768669808 0.00004
NM_024408.4(NOTCH2):c.5214-12T>C rs770224035 0.00003
NM_024408.4(NOTCH2):c.2501T>G (p.Leu834Trp) rs376526633 0.00002
NM_024408.4(NOTCH2):c.2636C>T (p.Ser879Phe) rs1004494435 0.00002
NM_024408.4(NOTCH2):c.4998C>T (p.Val1666=) rs765967094 0.00002
NM_024408.4(NOTCH2):c.1032C>T (p.Phe344=) rs782702694 0.00001
NM_024408.4(NOTCH2):c.1248G>A (p.Val416=) rs374135765 0.00001
NM_024408.4(NOTCH2):c.2026+6G>T rs587731563 0.00001
NM_024408.4(NOTCH2):c.2295A>G (p.Pro765=) rs139358772 0.00001
NM_024408.4(NOTCH2):c.6516C>T (p.Ser2172=) rs587733506 0.00001
NM_024408.4(NOTCH2):c.6562G>A (p.Ala2188Thr) rs139052054 0.00001
NM_024408.4(NOTCH2):c.7199G>A (p.Arg2400Gln) rs587654671 0.00001
NM_024408.4(NOTCH2):c.1787A>G (p.Asn596Ser)
NM_024408.4(NOTCH2):c.2063C>T (p.Ser688Phe)
NM_024408.4(NOTCH2):c.3523-15_3523-13del rs782523879
NM_024408.4(NOTCH2):c.4511+13C>T
NM_024408.4(NOTCH2):c.4665T>C (p.Pro1555=) rs587722015
NM_024408.4(NOTCH2):c.4860-8T>A
NM_024408.4(NOTCH2):c.4999G>A (p.Val1667Ile) rs17024517
NM_024408.4(NOTCH2):c.5024G>A (p.Arg1675His)
NM_024408.4(NOTCH2):c.6131G>A (p.Arg2044His)
NM_024408.4(NOTCH2):c.7326C>T (p.Ser2442=) rs2101141240

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