ClinVar Miner

List of variants studied for cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 by Mendelics

Included ClinVar conditions (7):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 15
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HGVS dbSNP gnomAD frequency
NM_000435.3(NOTCH3):c.1490C>T (p.Ser497Leu) rs114207045 0.00755
NM_000435.3(NOTCH3):c.4552C>A (p.Leu1518Met) rs141320511 0.00217
NM_000435.3(NOTCH3):c.509A>G (p.His170Arg) rs147373451 0.00184
NM_000435.3(NOTCH3):c.3691C>T (p.Arg1231Cys) rs201680145 0.00089
NM_000435.3(NOTCH3):c.2932A>C (p.Ser978Arg) rs141956294 0.00023
NM_000435.3(NOTCH3):c.4348G>A (p.Ala1450Thr) rs201082692 0.00011
NM_000435.3(NOTCH3):c.1630C>T (p.Arg544Cys) rs201118034 0.00010
NM_000435.3(NOTCH3):c.6569C>T (p.Ala2190Val) rs528151296 0.00009
NM_000435.3(NOTCH3):c.1594C>T (p.Arg532Cys) rs1202763005 0.00001
NM_000435.3(NOTCH3):c.1187C>G (p.Ser396Cys) rs863225297
NM_000435.3(NOTCH3):c.164G>A (p.Cys55Tyr) rs1555730188
NM_000435.3(NOTCH3):c.3043T>C (p.Cys1015Arg) rs1599382214
NM_000435.3(NOTCH3):c.328C>T (p.Arg110Cys) rs775836288
NM_000435.3(NOTCH3):c.4320C>G (p.Ser1440Arg) rs776057654
NM_000435.3(NOTCH3):c.457C>T (p.Arg153Cys) rs797045014

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