ClinVar Miner

List of variants in gene LYST reported as uncertain significance by Genetic Services Laboratory, University of Chicago

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Gene type:
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Total variants: 14
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HGVS dbSNP gnomAD frequency
NM_000081.4(LYST):c.5518T>G (p.Ser1840Ala) rs115330112 0.00485
NM_000081.4(LYST):c.8913T>G (p.Asn2971Lys) rs34702903 0.00276
NM_000081.4(LYST):c.2363+4T>C rs201398337 0.00252
NM_000081.4(LYST):c.6710A>C (p.Gln2237Pro) rs138443479 0.00148
NM_000081.4(LYST):c.8027G>T (p.Ser2676Ile) rs113209379 0.00086
NM_000081.4(LYST):c.9017A>G (p.Lys3006Arg) rs140934482 0.00047
NM_000081.4(LYST):c.3208A>G (p.Ile1070Val) rs150321124 0.00043
NM_000081.4(LYST):c.8151T>C (p.Ile2717=) rs201045270 0.00016
NM_000081.4(LYST):c.281C>T (p.Thr94Ile) rs777389303 0.00009
NM_000081.4(LYST):c.1848C>T (p.Asn616=) rs376259384 0.00001
NM_000081.4(LYST):c.6736C>T (p.Leu2246Phe) rs758716853 0.00001
NM_000081.4(LYST):c.9243A>C (p.Gln3081His) rs757239793 0.00001
NM_000081.4(LYST):c.5461-3dup rs557545474
NM_000081.4(LYST):c.7467C>T (p.Pro2489=) rs797045685

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