ClinVar Miner

List of variants reported as uncertain significance for CADASIL

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 35
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HGVS dbSNP
NM_000435.3(NOTCH3):c.*354_*355dup rs59869411
NM_000435.3(NOTCH3):c.*382T>G rs886054250
NM_000435.3(NOTCH3):c.*845G>T rs571584841
NM_000435.3(NOTCH3):c.-47C>G rs886054262
NM_000435.3(NOTCH3):c.1192+14C>T rs761651631
NM_000435.3(NOTCH3):c.1426A>T (p.Ser476Cys) rs886054260
NM_000435.3(NOTCH3):c.1760G>A (p.Arg587His) rs142787620
NM_000435.3(NOTCH3):c.203C>T (p.Pro68Leu) rs146810942
NM_000435.3(NOTCH3):c.2082C>G (p.Pro694=) rs751758366
NM_000435.3(NOTCH3):c.2329C>T (p.Pro777Ser) rs886054259
NM_000435.3(NOTCH3):c.2588C>T (p.Ser863Leu) rs758913191
NM_000435.3(NOTCH3):c.2589G>A (p.Ser863=) rs530503488
NM_000435.3(NOTCH3):c.2738C>T (p.Pro913Leu) rs370422650
NM_000435.3(NOTCH3):c.2792+6C>T rs376329316
NM_000435.3(NOTCH3):c.2793-14T>C rs886054258
NM_000435.3(NOTCH3):c.2831A>G (p.Asn944Ser) rs754545176
NM_000435.3(NOTCH3):c.3120C>T (p.Cys1040=) rs372688320
NM_000435.3(NOTCH3):c.3256G>A (p.Asp1086Asn) rs781765705
NM_000435.3(NOTCH3):c.3659G>A (p.Arg1220Gln) rs370233852
NM_000435.3(NOTCH3):c.3921G>C (p.Thr1307=) rs886054257
NM_000435.3(NOTCH3):c.4092G>A (p.Ala1364=) rs886054256
NM_000435.3(NOTCH3):c.4426G>A (p.Ala1476Thr) rs886054255
NM_000435.3(NOTCH3):c.4427C>T (p.Ala1476Val) rs886054254
NM_000435.3(NOTCH3):c.451C>G (p.Gln151Glu) rs371491165
NM_000435.3(NOTCH3):c.4639C>G (p.Leu1547Val) rs150037063
NM_000435.3(NOTCH3):c.4725C>A (p.Pro1575=) rs374042078
NM_000435.3(NOTCH3):c.5570G>A (p.Arg1857Gln) rs200883235
NM_000435.3(NOTCH3):c.5678G>A (p.Arg1893Gln) rs372834264
NM_000435.3(NOTCH3):c.5779G>A (p.Ala1927Thr) rs748889237
NM_000435.3(NOTCH3):c.5789C>T (p.Ala1930Val) rs886054253
NM_000435.3(NOTCH3):c.6111C>T (p.His2037=) rs764620593
NM_000435.3(NOTCH3):c.6239G>A (p.Arg2080Gln) rs759896413
NM_000435.3(NOTCH3):c.6506C>G (p.Pro2169Arg) rs886054252
NM_000435.3(NOTCH3):c.825G>A (p.Val275=) rs138837495
NM_000435.3(NOTCH3):c.874T>G (p.Phe292Val) rs886054261

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