ClinVar Miner

List of variants studied for chromosome 17 disorder by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (19):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 100
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HGVS dbSNP gnomAD frequency
NM_000304.4(PMP22):c.396C>T (p.Tyr132=) rs74361095 0.00743
NM_144997.7(FLCN):c.1177-21G>A rs150687840 0.00276
NM_000304.4(PMP22):c.79-6C>T rs201682989 0.00069
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.113G>T (p.Ser38Ile) rs139418842 0.00016
NM_144997.7(FLCN):c.1278C>T (p.Ile426=) rs41459448 0.00016
NM_144997.7(FLCN):c.1364A>G (p.Glu455Gly) rs199786696 0.00016
NM_000304.4(PMP22):c.-134G>A rs754758124 0.00013
NM_144997.7(FLCN):c.1538+10A>C rs12451312 0.00010
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.802C>T (p.Arg268Trp) rs762370059 0.00007
NM_144997.7(FLCN):c.867C>T (p.Leu289=) rs367562964 0.00007
NM_144997.7(FLCN):c.1283C>T (p.Pro428Leu) rs199889477 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.86T>C (p.Leu29Pro) rs150051278 0.00005
NM_000304.4(PMP22):c.185T>G (p.Leu62Arg) rs756046682 0.00004
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.707A>G (p.Asn236Ser) rs1194767470 0.00004
NM_144997.7(FLCN):c.82C>T (p.Pro28Ser) rs749758787 0.00004
NM_144997.7(FLCN):c.134C>G (p.Ala45Gly) rs556510460 0.00003
NM_144997.7(FLCN):c.1380C>T (p.Leu460=) rs773581294 0.00003
NM_144997.7(FLCN):c.139G>C (p.Glu47Gln) rs369115472 0.00003
NM_144997.7(FLCN):c.1430G>A (p.Arg477Gln) rs748878853 0.00003
NM_144997.7(FLCN):c.450T>C (p.Phe150=) rs200672897 0.00003
NM_144997.7(FLCN):c.536G>A (p.Arg179Gln) rs369906553 0.00003
NM_144997.7(FLCN):c.604G>A (p.Gly202Ser) rs774491699 0.00003
NM_144997.7(FLCN):c.634C>A (p.Gln212Lys) rs558699420 0.00003
NM_144997.7(FLCN):c.673G>A (p.Ala225Thr) rs769250170 0.00003
NM_144997.7(FLCN):c.779+5C>T rs745645385 0.00003
NM_000304.4(PMP22):c.255C>G (p.Cys85Trp) rs755701957 0.00002
NM_144997.7(FLCN):c.1049G>A (p.Arg350Gln) rs190786280 0.00002
NM_144997.7(FLCN):c.249+2C>T rs939223011 0.00002
NM_144997.7(FLCN):c.396+6C>T rs747922795 0.00002
NM_000304.4(PMP22):c.478G>A (p.Glu160Lys) rs1022583382 0.00001
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.1363G>A (p.Glu455Lys) rs759637055 0.00001
NM_144997.7(FLCN):c.1539-11G>C rs368472222 0.00001
NM_144997.7(FLCN):c.1635C>G (p.Asp545Glu) rs760329266 0.00001
NM_144997.7(FLCN):c.179C>T (p.Ala60Val) rs779900587 0.00001
NM_144997.7(FLCN):c.221C>T (p.Pro74Leu) rs773648142 0.00001
NM_144997.7(FLCN):c.230A>C (p.Lys77Thr) rs746556970 0.00001
NM_144997.7(FLCN):c.251G>T (p.Gly84Val) rs1386417463 0.00001
NM_144997.7(FLCN):c.451G>A (p.Val151Met) rs147164515 0.00001
NM_144997.7(FLCN):c.498C>G (p.Phe166Leu) rs1040675580 0.00001
NM_144997.7(FLCN):c.49C>T (p.Arg17Cys) rs765251703 0.00001
NM_144997.7(FLCN):c.535C>T (p.Arg179Trp) rs774358971 0.00001
NM_144997.7(FLCN):c.562T>A (p.Phe188Ile) rs1407566775 0.00001
NM_144997.7(FLCN):c.581G>A (p.Arg194Gln) rs756807584 0.00001
NM_144997.7(FLCN):c.619-8C>T rs1274815686 0.00001
NM_144997.7(FLCN):c.644G>A (p.Cys215Tyr) rs370074267 0.00001
NM_144997.7(FLCN):c.748C>A (p.Leu250Met) rs898441209 0.00001
NM_144997.7(FLCN):c.779+1G>T rs758175953 0.00001
NM_144997.7(FLCN):c.780-13C>T rs777670469 0.00001
NM_144997.7(FLCN):c.833C>T (p.Pro278Leu) rs748031634 0.00001
NM_144997.7(FLCN):c.981A>G (p.Ala327=) rs763078516 0.00001
NM_144997.7(FLCN):c.986C>T (p.Ser329Phe) rs770027312 0.00001
NM_000304.4(PMP22):c.434del (p.Leu145fs) rs863225029
NM_144997.7(FLCN):c.1040A>G (p.Lys347Arg) rs752337482
NM_144997.7(FLCN):c.1062+2T>G rs886039370
NM_144997.7(FLCN):c.10A>G (p.Ile4Val) rs1555611575
NM_144997.7(FLCN):c.1283C>A (p.Pro428His) rs199889477
NM_144997.7(FLCN):c.1285C>G (p.His429Asp) rs375082054
NM_144997.7(FLCN):c.1285C>T (p.His429Tyr) rs375082054
NM_144997.7(FLCN):c.1285dup (p.His429fs) rs80338682
NM_144997.7(FLCN):c.1300+4C>T rs1207963576
NM_144997.7(FLCN):c.1309G>C (p.Val437Leu) rs772207015
NM_144997.7(FLCN):c.1337G>A (p.Arg446His) rs750104212
NM_144997.7(FLCN):c.134C>T (p.Ala45Val) rs556510460
NM_144997.7(FLCN):c.1351C>T (p.Pro451Ser) rs2046880742
NM_144997.7(FLCN):c.1353T>C (p.Pro451=) rs1597580172
NM_144997.7(FLCN):c.1357_1363del (p.Gly453fs) rs1131690841
NM_144997.7(FLCN):c.1429C>T (p.Arg477Ter) rs879255678
NM_144997.7(FLCN):c.1487C>T (p.Ser496Phe) rs750535468
NM_144997.7(FLCN):c.1519C>T (p.Leu507Phe) rs1360467783
NM_144997.7(FLCN):c.1533G>A (p.Trp511Ter) rs398124530
NM_144997.7(FLCN):c.1547A>G (p.Lys516Arg) rs2046824022
NM_144997.7(FLCN):c.1657T>C (p.Trp553Arg) rs1131690833
NM_144997.7(FLCN):c.1709G>T (p.Arg570Leu) rs201056799
NM_144997.7(FLCN):c.1715C>A (p.Pro572His) rs1567804824
NM_144997.7(FLCN):c.1733G>A (p.Arg578Gln) rs1048214486
NM_144997.7(FLCN):c.202A>C (p.Ser68Arg) rs587778365
NM_144997.7(FLCN):c.380G>A (p.Arg127Gln) rs1567822604
NM_144997.7(FLCN):c.466TTC[1] (p.Phe157del) rs786203218
NM_144997.7(FLCN):c.499C>T (p.Gln167Ter) rs587782069
NM_144997.7(FLCN):c.598C>T (p.Leu200Phe) rs1229735191
NM_144997.7(FLCN):c.718TCGCTGACA[1] (p.241LTS[1]) rs1209487287
NM_144997.7(FLCN):c.728C>T (p.Ser243Leu) rs1026067642
NM_144997.7(FLCN):c.756G>A (p.Ala252=) rs746664975
NM_144997.7(FLCN):c.75G>A (p.Leu25=) rs200350612
NM_144997.7(FLCN):c.798C>T (p.Gly266=) rs2047092959
NM_144997.7(FLCN):c.871+13T>C rs770537219

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