ClinVar Miner

List of variants in gene NOTCH3 reported by CeGaT Praxis fuer Humangenetik Tuebingen

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Gene type:
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Total variants: 20
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HGVS dbSNP
NM_000435.3(NOTCH3):c.1808A>G (p.Lys603Arg) rs1057519102
NM_000435.3(NOTCH3):c.1819C>T (p.Arg607Cys) rs777751303
NM_000435.3(NOTCH3):c.2118C>T (p.His706=) rs760444055
NM_000435.3(NOTCH3):c.2182C>T (p.Arg728Cys) rs1057519101
NM_000435.3(NOTCH3):c.2359G>A (p.Glu787Lys) rs1064797234
NM_000435.3(NOTCH3):c.2507C>A (p.Thr836Asn) rs34338511
NM_000435.3(NOTCH3):c.2738C>T (p.Pro913Leu) rs370422650
NM_000435.3(NOTCH3):c.2856C>A (p.Pro952=) rs968392255
NM_000435.3(NOTCH3):c.3044G>A (p.Cys1015Tyr) rs1555727938
NM_000435.3(NOTCH3):c.3664T>G (p.Cys1222Gly) rs199638166
NM_000435.3(NOTCH3):c.3758A>C (p.Gln1253Pro) rs749611934
NM_000435.3(NOTCH3):c.376A>T (p.Ser126Cys) rs1555729534
NM_000435.3(NOTCH3):c.4038C>T (p.His1346=) rs1555727404
NM_000435.3(NOTCH3):c.4044C>T (p.Gly1348=) rs78926093
NM_000435.3(NOTCH3):c.451C>G (p.Gln151Glu) rs371491165
NM_000435.3(NOTCH3):c.5647G>T (p.Asp1883Tyr) rs1568347508
NM_000435.3(NOTCH3):c.5739G>A (p.Ala1913=) rs776548752
NM_000435.3(NOTCH3):c.822C>T (p.Asp274=) rs755998957
NM_000435.3(NOTCH3):c.924C>T (p.Gly308=) rs1043995
NM_000435.3(NOTCH3):c.932G>T (p.Cys311Phe) rs1555729346

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