ClinVar Miner

List of variants reported as benign for apocrine sweat gland disorder

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 14
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HGVS dbSNP gnomAD frequency
NM_000021.4(PSEN1):c.868+16G>T rs165932 0.61457
NM_172341.4(PSENEN):c.61+17G>C rs10402601 0.13695
NM_000021.3(PSEN1):c.-296C>T rs1800839 0.05747
NM_000021.4(PSEN1):c.1248+8T>C rs362382 0.01609
NM_000021.4(PSEN1):c.953A>G (p.Glu318Gly) rs17125721 0.01497
NM_000021.3(PSEN1):c.-528C>G rs34086577 0.00339
NM_000021.4(PSEN1):c.321C>G (p.Thr107=) rs139863395 0.00150
NM_000021.4(PSEN1):c.1017A>G (p.Glu339=) rs201776669 0.00041
NM_000021.4(PSEN1):c.654A>G (p.Pro218=) rs115760359 0.00011
NM_000021.4(PSEN1):c.138C>T (p.His46=) rs116882898 0.00003
NC_000014.9:g.73136378del rs148370307
NM_000021.4(PSEN1):c.1386C>T (p.Phe462=)
NM_000021.4(PSEN1):c.549-4dup rs763991845
NM_000021.4(PSEN1):c.843G>C (p.Thr281=) rs186495252

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