ClinVar Miner

List of variants in gene LYST reported by Genome Diagnostics Laboratory, University Medical Center Utrecht

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Gene type:
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Total variants: 25
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HGVS dbSNP gnomAD frequency
NM_000081.4(LYST):c.574T>G (p.Leu192Val) rs7524261 0.04386
NM_000081.4(LYST):c.8411G>A (p.Gly2804Asp) rs35333195 0.04044
NM_000081.4(LYST):c.3989A>C (p.Asp1330Ala) rs74641549 0.04030
NM_000081.4(LYST):c.3050G>A (p.Ser1017Asn) rs10465613 0.03661
NM_000081.4(LYST):c.7137A>C (p.Leu2379=) rs61738992 0.02884
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.4548C>T (p.Ser1516=) rs116551057 0.00108
NM_000081.4(LYST):c.7506A>G (p.Gln2502=) rs140434436 0.00106
NM_000081.4(LYST):c.3507C>T (p.Leu1169=) rs74861744 0.00083
NM_000081.4(LYST):c.2363+10dup rs760632806 0.00058
NM_000081.4(LYST):c.143A>G (p.His48Arg) rs200132460 0.00046
NM_000081.4(LYST):c.4006+8G>A rs369153654 0.00021
NM_000081.4(LYST):c.6432A>G (p.Ser2144=) rs145080654 0.00011
NM_000081.4(LYST):c.3030A>G (p.Gly1010=) rs751511204 0.00006
NM_000081.4(LYST):c.9804A>G (p.Pro3268=) rs368740409 0.00004
NM_000081.4(LYST):c.2757G>A (p.Ser919=) rs753541871 0.00002
NM_000081.4(LYST):c.9834T>C (p.Thr3278=) rs901343967 0.00002
NM_000081.4(LYST):c.5037T>C (p.Gly1679=) rs753293453 0.00001
NM_000081.4(LYST):c.6216A>G (p.Val2072=) rs371248013 0.00001
NM_000081.4(LYST):c.11268-5del rs36014994
NM_000081.4(LYST):c.5922+10A>G rs375422713
NM_000081.4(LYST):c.8980G>A (p.Glu2994Lys)
NM_000081.4(LYST):c.9785-21_9785-17del rs547173744

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