ClinVar Miner

List of variants in gene NOTCH3 reported by GeneDx

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Gene type:
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Total variants: 19
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HGVS dbSNP
NM_000435.2(NOTCH3):c.1235A>G (p.Gln412Arg) rs1131691934
NM_000435.2(NOTCH3):c.1364G>T (p.Cys455Phe) rs886041513
NM_000435.2(NOTCH3):c.1630C>T (p.Arg544Cys) rs201118034
NM_000435.2(NOTCH3):c.2840G>C (p.Ser947Thr) rs1555728008
NM_000435.2(NOTCH3):c.3062A>G (p.Tyr1021Cys) rs1167405466
NM_000435.2(NOTCH3):c.3182G>A (p.Cys1061Tyr) rs1064794216
NM_000435.2(NOTCH3):c.323G>T (p.Cys108Phe) rs1555729584
NM_000435.2(NOTCH3):c.3352A>T (p.Asn1118Tyr) rs376950447
NM_000435.2(NOTCH3):c.3401G>A (p.Gly1134Glu) rs1257366364
NM_000435.2(NOTCH3):c.3691C>T (p.Arg1231Cys) rs201680145
NM_000435.2(NOTCH3):c.451C>G (p.Gln151Glu) rs371491165
NM_000435.2(NOTCH3):c.5366G>A (p.Gly1789Asp) rs1085307509
NM_000435.2(NOTCH3):c.5926dupC (p.Leu1976Profs) rs1555725170
NM_000435.2(NOTCH3):c.619C>T (p.Arg207Cys) rs775267348
NM_000435.2(NOTCH3):c.6508dup (p.Leu2170Profs) rs1555725058
NM_000435.2(NOTCH3):c.6633C>G (p.Tyr2211Ter) rs935487877
NM_000435.2(NOTCH3):c.665G>A (p.Cys222Tyr) rs1555729452
NM_000435.2(NOTCH3):c.6663C>G (p.Tyr2221Ter) rs869312911
NM_000435.2(NOTCH3):c.6692delC (p.Pro2231Glnfs) rs773656789

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