ClinVar Miner

List of variants studied for Parkinson disease 13, autosomal dominant, susceptibility to

Included ClinVar conditions (2):
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Total variants: 49
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HGVS dbSNP gnomAD frequency
NM_181575.5(AUP1):c.129C>G (p.Leu43=) rs1183739 0.11203
NM_013247.5(HTRA2):c.*94C>T rs79220020 0.03334
NM_032603.5(LOXL3):c.*237G>T rs71640295 0.02253
NM_013247.5(HTRA2):c.480C>G (p.Ala160=) rs2231248 0.01771
NM_013247.5(HTRA2):c.421G>T (p.Ala141Ser) rs72470544 0.01709
NM_032603.5(LOXL3):c.*90T>C rs114661282 0.01397
NM_013247.5(HTRA2):c.1195G>A (p.Gly399Ser) rs72470545 0.00231
NM_013247.5(HTRA2):c.215T>C (p.Leu72Pro) rs150047108 0.00200
NM_013247.5(HTRA2):c.354G>A (p.Leu118=) rs199735424 0.00121
NM_181575.5(AUP1):c.90C>G (p.Leu30=) rs376231592 0.00111
NM_013247.5(HTRA2):c.627A>G (p.Arg209=) rs149169879 0.00078
NM_013247.5(HTRA2):c.510C>T (p.His170=) rs200747610 0.00053
NM_013247.5(HTRA2):c.1155C>T (p.Pro385=) rs150357486 0.00050
NM_181575.5(AUP1):c.-17C>T rs757541077 0.00041
NM_032603.5(LOXL3):c.*178A>T rs71640296 0.00039
NM_181575.5(AUP1):c.-15C>T rs371791263 0.00031
NM_013247.5(HTRA2):c.*267C>T rs184230827 0.00027
NM_013247.5(HTRA2):c.1046-5C>G rs374529449 0.00016
NM_013247.5(HTRA2):c.77G>A (p.Gly26Glu) rs145946172 0.00015
NM_181575.5(AUP1):c.-54C>T rs374306906 0.00014
NM_013247.5(HTRA2):c.1046-13C>T rs542851656 0.00009
NM_013247.5(HTRA2):c.1131A>G (p.Leu377=) rs758108369 0.00008
NM_013247.5(HTRA2):c.1056C>T (p.Ser352=) rs781540048 0.00006
NM_181575.5(AUP1):c.141C>T (p.Ile47=) rs71640291 0.00006
NM_013247.5(HTRA2):c.618C>G (p.Val206=) rs186272815 0.00003
NM_032603.5(LOXL3):c.*108A>T rs886056348 0.00003
NM_013247.5(HTRA2):c.873T>C (p.Asn291=) rs775948550 0.00002
NM_013247.4(HTRA2):c.-136C>T rs886056343 0.00001
NM_013247.4(HTRA2):c.-146G>A rs569404179 0.00001
NM_013247.4(HTRA2):c.-236G>C rs886056341 0.00001
NM_013247.5(HTRA2):c.*249G>C rs775428682 0.00001
NM_013247.5(HTRA2):c.427C>G (p.Pro143Ala) rs387906942 0.00001
NM_013247.5(HTRA2):c.937C>T (p.Leu313=) rs766035905 0.00001
NM_181575.5(AUP1):c.-19C>T rs886056340 0.00001
NM_181575.5(AUP1):c.-64C>T rs377647662 0.00001
NM_181575.5(AUP1):c.25C>T (p.Pro9Ser) rs777371915 0.00001
NM_181575.5(AUP1):c.51-4C>T rs769713877 0.00001
NM_013247.4(HTRA2):c.-136C>G rs886056343
NM_013247.4(HTRA2):c.-216G>A rs886056342
NM_013247.4(HTRA2):c.-86G>C rs886056344
NM_013247.5(HTRA2):c.*265C>T rs1016550488
NM_013247.5(HTRA2):c.*291G>A rs886056347
NM_013247.5(HTRA2):c.1079G>A (p.Arg360His) rs1475151932
NM_013247.5(HTRA2):c.1346C>T (p.Thr449Ile) rs886056346
NM_013247.5(HTRA2):c.241G>A (p.Ala81Thr) rs886056345
NM_013247.5(HTRA2):c.507-10T>A rs747756166
NM_013247.5(HTRA2):c.507-9C>A rs151291127
NM_013247.5(HTRA2):c.825T>C (p.Val275=) rs777650346
NM_032603.5(LOXL3):c.*84C>T rs886056349

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