ClinVar Miner

Variants in gene LYST with conflicting interpretations "benign" and "uncertain significance"

Submission 1 (benign) minimum review status: Submission 1 (benign) method:
Submission 2 (uncertain significance) minimum review status: Submission 2 (uncertain significance) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 18
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HGVS dbSNP gnomAD frequency
NM_000081.4(LYST):c.9C>T (p.Thr3=) rs33998267 0.01172
NM_000081.4(LYST):c.10941-7C>A rs72761794 0.00614
NM_000081.4(LYST):c.5518T>G (p.Ser1840Ala) rs115330112 0.00485
NM_000081.4(LYST):c.10800+4G>T rs41308172 0.00441
NM_000081.4(LYST):c.6482A>C (p.Glu2161Ala) rs147756847 0.00416
NM_000081.4(LYST):c.1686G>C (p.Gln562His) rs77091385 0.00394
NM_000081.4(LYST):c.2363+4T>C rs201398337 0.00252
NM_000081.4(LYST):c.8487C>T (p.Ile2829=) rs144597913 0.00126
NM_000081.4(LYST):c.4548C>T (p.Ser1516=) rs116551057 0.00108
NM_000081.4(LYST):c.2769A>C (p.Ser923=) rs112739986 0.00086
NM_000081.4(LYST):c.1655T>C (p.Val552Ala) rs199617821 0.00038
NM_000081.4(LYST):c.6782G>A (p.Arg2261His) rs147791378 0.00031
NM_000081.4(LYST):c.2700A>G (p.Leu900=) rs111463684 0.00017
NM_000081.4(LYST):c.2150A>G (p.Asn717Ser) rs201255245 0.00013
NM_000081.4(LYST):c.2517T>C (p.Ile839=) rs78172154 0.00012
NM_000081.4(LYST):c.11268-17dup rs36014994
NM_000081.4(LYST):c.3940-17dup
NM_000081.4(LYST):c.5461-3dup rs557545474

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