ClinVar Miner

List of variants studied for CADASIL 1 by Mendelics

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 14
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NM_000435.3(NOTCH3):c.1187C>G (p.Ser396Cys) rs863225297
NM_000435.3(NOTCH3):c.1490C>T (p.Ser497Leu) rs114207045
NM_000435.3(NOTCH3):c.1594C>T (p.Arg532Cys)
NM_000435.3(NOTCH3):c.164G>A (p.Cys55Tyr) rs1555730188
NM_000435.3(NOTCH3):c.2932A>C (p.Ser978Arg)
NM_000435.3(NOTCH3):c.3043T>C (p.Cys1015Arg)
NM_000435.3(NOTCH3):c.328C>T (p.Arg110Cys) rs775836288
NM_000435.3(NOTCH3):c.3691C>T (p.Arg1231Cys) rs201680145
NM_000435.3(NOTCH3):c.4320C>G (p.Ser1440Arg)
NM_000435.3(NOTCH3):c.4348G>A (p.Ala1450Thr) rs201082692
NM_000435.3(NOTCH3):c.4552C>A (p.Leu1518Met) rs141320511
NM_000435.3(NOTCH3):c.457C>T (p.Arg153Cys) rs797045014
NM_000435.3(NOTCH3):c.509A>G (p.His170Arg) rs147373451
NM_000435.3(NOTCH3):c.6569C>T (p.Ala2190Val)

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