ClinVar Miner

List of variants in gene CLCN2 studied for adrenal gland hyperfunction

Included ClinVar conditions (18):
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Total variants: 47
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HGVS dbSNP gnomAD frequency
NM_004366.6(CLCN2):c.2271+8T>G rs114350071 0.01055
NM_004366.6(CLCN2):c.2415+9A>G rs192449317 0.00351
NM_004366.6(CLCN2):c.1937G>A (p.Arg646Gln) rs115961753 0.00156
NM_004366.6(CLCN2):c.1930C>T (p.Arg644Cys) rs148545588 0.00119
NM_004366.6(CLCN2):c.616-19C>T rs189868847 0.00112
NM_004366.6(CLCN2):c.1086-17G>A rs200509841 0.00111
NM_004366.6(CLCN2):c.1128G>A (p.Thr376=) rs149773402 0.00109
NM_004366.6(CLCN2):c.704G>A (p.Arg235Gln) rs71318369 0.00108
NM_004366.6(CLCN2):c.1633G>A (p.Ala545Thr) rs137978189 0.00027
NM_004366.6(CLCN2):c.879A>G (p.Ala293=) rs138937943 0.00018
NM_004366.6(CLCN2):c.1491G>A (p.Gly497=) rs138627624 0.00017
NM_004366.6(CLCN2):c.936C>G (p.Leu312=) rs41266267 0.00016
NM_004366.6(CLCN2):c.1548C>A (p.Ser516=) rs370266713 0.00014
NM_004366.6(CLCN2):c.719T>C (p.Leu240Pro) rs143751880 0.00013
NM_004366.6(CLCN2):c.1600G>C (p.Val534Leu) rs200337116 0.00012
NM_004366.6(CLCN2):c.221-8G>A rs769713180 0.00012
NM_004366.6(CLCN2):c.726C>T (p.Ala242=) rs768569603 0.00011
NM_004366.6(CLCN2):c.898+1G>A rs141074059 0.00009
NM_004366.6(CLCN2):c.1141C>G (p.Pro381Ala) rs141605519 0.00008
NM_004366.6(CLCN2):c.1934G>A (p.Arg645Gln) rs375401465 0.00007
NM_004366.6(CLCN2):c.1214C>T (p.Thr405Met) rs376497260 0.00006
NM_004366.6(CLCN2):c.2156C>T (p.Ser719Leu) rs138573287 0.00006
NM_004366.6(CLCN2):c.1517C>T (p.Ala506Val) rs769768770 0.00005
NM_004366.6(CLCN2):c.1793G>A (p.Arg598Gln) rs780348130 0.00004
NM_004366.6(CLCN2):c.1958G>C (p.Arg653Thr) rs568335048 0.00004
NM_004366.6(CLCN2):c.2143+8C>T rs752854427 0.00004
NM_004366.6(CLCN2):c.2642G>A (p.Arg881His) rs199616806 0.00004
NM_004366.6(CLCN2):c.154C>T (p.Pro52Ser) rs184790106 0.00002
NM_004366.6(CLCN2):c.1709G>A (p.Trp570Ter) rs201330912 0.00002
NM_004366.6(CLCN2):c.2279C>T (p.Ala760Val) rs781034991 0.00002
NM_004366.6(CLCN2):c.2499G>A (p.Lys833=) rs368782176 0.00002
NM_004366.6(CLCN2):c.1715G>A (p.Arg572His) rs1303886490 0.00001
NM_004366.6(CLCN2):c.221-4C>A rs748018356 0.00001
NM_004366.6(CLCN2):c.2623C>G (p.Leu875Val) rs755134167 0.00001
NM_004366.6(CLCN2):c.481+18G>A rs759220889 0.00001
NM_004366.6(CLCN2):c.515G>A (p.Arg172Gln) rs1293789661 0.00001
NM_004366.6(CLCN2):c.672C>T (p.Ser224=) rs755629585 0.00001
NM_004366.6(CLCN2):c.1084A>T (p.Lys362Ter) rs1553856214
NM_004366.6(CLCN2):c.1690T>C (p.Tyr564His) rs1728346222
NM_004366.6(CLCN2):c.1856-11G>C rs200595019
NM_004366.6(CLCN2):c.1912G>A (p.Ala638Thr)
NM_004366.6(CLCN2):c.2415+4_2415+5dup rs146494980
NM_004366.6(CLCN2):c.2593A>C (p.Ser865Arg) rs1553853557
NM_004366.6(CLCN2):c.65T>A (p.Met22Lys) rs758379595
NM_004366.6(CLCN2):c.668_672del (p.Leu223fs) rs756385625
NM_004366.6(CLCN2):c.71G>A (p.Gly24Asp) rs1085307938
NM_004366.6(CLCN2):c.76T>A (p.Tyr26Asn) rs1553857113

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