ClinVar Miner

List of variants in gene HTRA2 reported as uncertain significance for basal ganglia disorder

Included ClinVar conditions (83):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 13
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HGVS dbSNP gnomAD frequency
NM_013247.5(HTRA2):c.421G>T (p.Ala141Ser) rs72470544 0.01709
NM_013247.5(HTRA2):c.77G>A (p.Gly26Glu) rs145946172 0.00015
NM_013247.5(HTRA2):c.1046-13C>T rs542851656 0.00009
NM_013247.5(HTRA2):c.1056C>T (p.Ser352=) rs781540048 0.00006
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.-236G>C rs886056341 0.00001
NM_013247.5(HTRA2):c.937C>T (p.Leu313=) rs766035905 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.1079G>A (p.Arg360His) rs1475151932
NM_013247.5(HTRA2):c.241G>A (p.Ala81Thr) rs886056345

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