ClinVar Miner

List of variants reported as likely benign for chromosome 17 disorder

Included ClinVar conditions (19):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 38
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HGVS dbSNP gnomAD frequency
NM_000304.4(PMP22):c.*577T>C rs7538 0.20549
NM_000304.4(PMP22):c.*828G>A rs13027 0.06019
NM_000304.4(PMP22):c.*228G>A rs1804193 0.05698
NM_000304.4(PMP22):c.*1111G>T rs7415 0.04701
NM_000304.4(PMP22):c.*1120T>C rs11654383 0.01749
NM_000304.4(PMP22):c.396C>T (p.Tyr132=) rs74361095 0.00743
NM_000304.4(PMP22):c.353C>T (p.Thr118Met) rs104894619 0.00378
NM_144997.7(FLCN):c.1177-21G>A rs150687840 0.00276
NM_000304.4(PMP22):c.-141C>G rs560442424 0.00204
NM_000069.3(CACNA1S):c.1452C>T (p.Tyr484=) rs144206959 0.00097
NM_144997.7(FLCN):c.1269C>T (p.His423=) rs41464156 0.00053
NM_144997.7(FLCN):c.619-20C>T rs202217257 0.00037
NM_144997.7(FLCN):c.1326C>T (p.His442=) rs145004158 0.00023
NM_144997.7(FLCN):c.1176+15T>C rs550870270 0.00020
NM_144997.7(FLCN):c.1062+7G>A rs540198776 0.00016
NM_144997.7(FLCN):c.1278C>T (p.Ile426=) rs41459448 0.00016
NM_144997.7(FLCN):c.1432+8C>T rs201898226 0.00009
NM_144997.7(FLCN):c.779+9C>T rs373504780 0.00009
NM_144997.7(FLCN):c.792G>A (p.Ala264=) rs140500421 0.00008
NM_144997.7(FLCN):c.867C>T (p.Leu289=) rs367562964 0.00007
NM_000304.4(PMP22):c.*26T>C rs200563670 0.00006
NM_144997.7(FLCN):c.396+7C>T rs781155484 0.00006
NM_144997.7(FLCN):c.1692C>T (p.His564=) rs201810397 0.00005
NM_144997.7(FLCN):c.1068G>T (p.Leu356=) rs534904034 0.00004
NM_144997.7(FLCN):c.645C>T (p.Cys215=) rs772360950 0.00004
NM_144997.7(FLCN):c.1380C>T (p.Leu460=) rs773581294 0.00003
NM_144997.7(FLCN):c.450T>C (p.Phe150=) rs200672897 0.00003
NM_144997.7(FLCN):c.1227C>T (p.Tyr409=) rs561236067 0.00001
NM_144997.7(FLCN):c.1301-8T>C rs571192457 0.00001
NM_144997.7(FLCN):c.1539-11G>C rs368472222 0.00001
NM_144997.7(FLCN):c.619-8C>T rs1274815686 0.00001
NM_144997.7(FLCN):c.780-13C>T rs777670469 0.00001
NM_144997.7(FLCN):c.981A>G (p.Ala327=) rs763078516 0.00001
NM_000304.4(PMP22):c.*105CAAAC[2] rs112829799
NM_000304.4(PMP22):c.*525CT[1] rs71699667
NM_144997.7(FLCN):c.1353T>C (p.Pro451=) rs1597580172
NM_144997.7(FLCN):c.756G>A (p.Ala252=) rs746664975
NM_144997.7(FLCN):c.871+13T>C rs770537219

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