ClinVar Miner

List of variants in gene NOTCH2 reported as benign for Hajdu-Cheney syndrome

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Total variants: 18
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NM_024408.4(NOTCH2):c.1315G>A (p.Ala439Thr) rs199565938
NM_024408.4(NOTCH2):c.3034T>C (p.Leu1012=) rs77194332
NM_024408.4(NOTCH2):c.3117G>A (p.Thr1039=) rs36084504
NM_024408.4(NOTCH2):c.3234C>T (p.Cys1078=) rs7543643
NM_024408.4(NOTCH2):c.3441G>A (p.Glu1147=) rs371875533
NM_024408.4(NOTCH2):c.3479A>G (p.His1160Arg) rs142876168
NM_024408.4(NOTCH2):c.3519C>T (p.Cys1173=) rs115325955
NM_024408.4(NOTCH2):c.3625T>G (p.Phe1209Val) rs147223770
NM_024408.4(NOTCH2):c.3779G>A (p.Arg1260His) rs75423398
NM_024408.4(NOTCH2):c.3980A>G (p.Asp1327Gly) rs61752484
NM_024408.4(NOTCH2):c.4014C>T (p.Ser1338=) rs17024525
NM_024408.4(NOTCH2):c.4238T>A (p.Leu1413His) rs41313282
NM_024408.4(NOTCH2):c.4305G>A (p.Arg1435=) rs6692009
NM_024408.4(NOTCH2):c.4311C>T (p.Gly1437=) rs34561092
NM_024408.4(NOTCH2):c.5065A>T (p.Ile1689Phe) rs60854092
NM_024408.4(NOTCH2):c.6421C>T (p.Leu2141=) rs3795666
NM_024408.4(NOTCH2):c.7075C>G (p.Pro2359Ala) rs75831573
NM_024408.4(NOTCH2):c.939C>T (p.Gly313=) rs7533978

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