ClinVar Miner

List of variants in gene AASS studied for not provided

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Gene type:
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Total variants: 144
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HGVS dbSNP gnomAD frequency
NM_005763.4(AASS):c.1166+136G>T rs279675 0.63879
NM_005763.4(AASS):c.2281-57C>T rs1206369 0.63867
NM_005763.4(AASS):c.2396+65G>A rs1206368 0.63826
NM_005763.4(AASS):c.687+71C>G rs279677 0.63440
NM_005763.4(AASS):c.-15-196C>T rs10242443 0.15754
NM_005763.4(AASS):c.2184+105T>C rs3213699 0.14023
NM_005763.4(AASS):c.688-15A>G rs279676 0.10606
NC_000007.14:g.122144387G>A rs61298298 0.09609
NM_005763.4(AASS):c.1876-200T>A rs13232539 0.07397
NM_005763.4(AASS):c.1279-123T>G rs13223149 0.04806
NM_005763.4(AASS):c.1043+171A>T rs41281707 0.04739
NM_005763.4(AASS):c.1043+170T>A rs56052527 0.04157
NM_005763.4(AASS):c.1293G>A (p.Ala431=) rs34901960 0.00976
NM_005763.4(AASS):c.1338+13C>A rs73442839 0.00477
NM_005763.4(AASS):c.1678C>T (p.Pro560Ser) rs74882337 0.00469
NM_005763.4(AASS):c.894+17C>T rs17532544 0.00431
NM_005763.4(AASS):c.2459A>G (p.Lys820Arg) rs73441002 0.00420
NM_005763.4(AASS):c.1107T>C (p.Cys369=) rs61750983 0.00238
NM_005763.4(AASS):c.2339A>C (p.Lys780Thr) rs147475291 0.00097
NM_005763.4(AASS):c.1529-20A>G rs201389071 0.00096
NM_005763.4(AASS):c.37G>C (p.Gly13Arg) rs149272323 0.00085
NM_005763.4(AASS):c.1528+17T>C rs186519593 0.00076
NM_005763.4(AASS):c.992C>T (p.Pro331Leu) rs149832034 0.00073
NM_005763.4(AASS):c.2312C>T (p.Ser771Leu) rs139513373 0.00068
NM_005763.4(AASS):c.945C>T (p.Asn315=) rs145752623 0.00068
NM_005763.4(AASS):c.2762A>G (p.Gln921Arg) rs140285200 0.00046
NM_005763.4(AASS):c.1048G>A (p.Val350Met) rs780164559 0.00030
NM_005763.4(AASS):c.2714G>A (p.Gly905Glu) rs145309509 0.00026
NM_005763.4(AASS):c.2317T>A (p.Ser773Thr) rs147414883 0.00024
NM_005763.4(AASS):c.168G>A (p.Lys56=) rs141727397 0.00023
NM_005763.4(AASS):c.1735A>T (p.Ile579Phe) rs202057188 0.00022
NM_005763.4(AASS):c.767-4C>A rs745523217 0.00019
NM_005763.4(AASS):c.2118G>A (p.Thr706=) rs149674194 0.00011
NM_005763.4(AASS):c.2185-10C>A rs368322844 0.00011
NM_005763.4(AASS):c.1529-13A>G rs777954611 0.00009
NM_005763.4(AASS):c.1989G>T (p.Gln663His) rs377317222 0.00009
NM_005763.4(AASS):c.525T>C (p.His175=) rs1015943958 0.00009
NM_005763.4(AASS):c.2537A>G (p.His846Arg) rs370656085 0.00007
NM_005763.4(AASS):c.460G>A (p.Ala154Thr) rs764000460 0.00006
NM_005763.4(AASS):c.1035A>G (p.Leu345=) rs146596013 0.00005
NM_005763.4(AASS):c.2711A>G (p.Tyr904Cys) rs150180890 0.00004
NM_005763.4(AASS):c.323T>C (p.Phe108Ser) rs201661225 0.00004
NM_005763.4(AASS):c.993G>A (p.Pro331=) rs752693651 0.00004
NM_005763.4(AASS):c.395G>A (p.Arg132His) rs761154340 0.00002
NM_005763.4(AASS):c.502T>C (p.Leu168=) rs774979292 0.00002
NM_005763.4(AASS):c.788C>T (p.Thr263Met) rs746536178 0.00002
NM_005763.4(AASS):c.1497A>G (p.Leu499=) rs369170463 0.00001
NM_005763.4(AASS):c.1534G>A (p.Asp512Asn) rs533476674 0.00001
NM_005763.4(AASS):c.1708A>G (p.Lys570Glu) rs749306292 0.00001
NM_005763.4(AASS):c.191G>A (p.Arg64Gln) rs369365675 0.00001
NM_005763.4(AASS):c.799C>T (p.Arg267Cys) rs1795195895 0.00001
GRCh37/hg19 7q31.32(chr7:121734181-121803684)x1
GRCh37/hg19 7q31.32(chr7:121734708-121803926)x1
GRCh37/hg19 7q31.32(chr7:121734934-121803684)x1
NC_000007.13:g.(?_121738484)_(121773780_?)del
NM_005763.4(AASS):c.102C>G (p.Asn34Lys)
NM_005763.4(AASS):c.1044-220dup rs776611119
NM_005763.4(AASS):c.1044-8A>G
NM_005763.4(AASS):c.1170T>A (p.Val390=) rs751112699
NM_005763.4(AASS):c.1179G>A (p.Ser393=)
NM_005763.4(AASS):c.1212G>T (p.Pro404=)
NM_005763.4(AASS):c.123G>A (p.Pro41=)
NM_005763.4(AASS):c.1278+19T>C
NM_005763.4(AASS):c.1278+7A>G
NM_005763.4(AASS):c.1288G>A (p.Asp430Asn)
NM_005763.4(AASS):c.1291G>A (p.Ala431Thr)
NM_005763.4(AASS):c.1332G>A (p.Val444=)
NM_005763.4(AASS):c.1338+10G>A
NM_005763.4(AASS):c.1345A>C (p.Ile449Leu)
NM_005763.4(AASS):c.1362A>G (p.Thr454=)
NM_005763.4(AASS):c.1406+14A>C
NM_005763.4(AASS):c.1406+202C>G rs279663
NM_005763.4(AASS):c.1407-18_1407-7del
NM_005763.4(AASS):c.1407-30_1407-22dup rs34474265
NM_005763.4(AASS):c.1407-30_1407-24dup rs34474265
NM_005763.4(AASS):c.1407-30dup rs34474265
NM_005763.4(AASS):c.1407-7_1407-6insTTTTTTTTTTTTTTTTTTTTTTTTTTTGTT rs34474265
NM_005763.4(AASS):c.1407-7del rs34474265
NM_005763.4(AASS):c.1421C>T (p.Ser474Leu)
NM_005763.4(AASS):c.1434C>T (p.Gly478=)
NM_005763.4(AASS):c.1473A>G (p.Ile491Met)
NM_005763.4(AASS):c.1529-3T>C
NM_005763.4(AASS):c.1590C>T (p.Ser530=) rs1584840247
NM_005763.4(AASS):c.1655+8T>A
NM_005763.4(AASS):c.1656-18T>C
NM_005763.4(AASS):c.1681C>T (p.Leu561Phe) rs114698875
NM_005763.4(AASS):c.1725T>A (p.Thr575=)
NM_005763.4(AASS):c.1731C>T (p.Ser577=) rs1584828819
NM_005763.4(AASS):c.1833A>G (p.Leu611=)
NM_005763.4(AASS):c.1875+107dup rs60690049
NM_005763.4(AASS):c.1875+118del rs60690049
NM_005763.4(AASS):c.1876-18T>C
NM_005763.4(AASS):c.1884A>G (p.Ser628=)
NM_005763.4(AASS):c.1938G>A (p.Leu646=)
NM_005763.4(AASS):c.193C>T (p.Arg65Trp)
NM_005763.4(AASS):c.1990T>C (p.Ser664Pro)
NM_005763.4(AASS):c.2055C>T (p.Ala685=)
NM_005763.4(AASS):c.210+6T>A
NM_005763.4(AASS):c.2221G>A (p.Gly741Ser)
NM_005763.4(AASS):c.2276C>G (p.Thr759Ser)
NM_005763.4(AASS):c.2276C>T (p.Thr759Ile)
NM_005763.4(AASS):c.2278T>C (p.Trp760Arg) rs1584808186
NM_005763.4(AASS):c.2280+13G>A
NM_005763.4(AASS):c.2280+19C>T
NM_005763.4(AASS):c.2314C>T (p.Pro772Ser) rs531931836
NM_005763.4(AASS):c.2384A>G (p.Glu795Gly)
NM_005763.4(AASS):c.2397-16C>T
NM_005763.4(AASS):c.2428C>T (p.Gln810Ter)
NM_005763.4(AASS):c.2485+10G>C
NM_005763.4(AASS):c.2516G>A (p.Arg839Lys) rs2150506255
NM_005763.4(AASS):c.2540C>T (p.Pro847Leu) rs2150506235
NM_005763.4(AASS):c.2594A>G (p.Asn865Ser)
NM_005763.4(AASS):c.2633C>A (p.Thr878Asn)
NM_005763.4(AASS):c.2634C>T (p.Thr878=)
NM_005763.4(AASS):c.2662+20G>T
NM_005763.4(AASS):c.2663-14T>G
NM_005763.4(AASS):c.2669T>C (p.Ile890Thr)
NM_005763.4(AASS):c.2727G>A (p.Glu909=)
NM_005763.4(AASS):c.292G>A (p.Glu98Lys)
NM_005763.4(AASS):c.293A>G (p.Glu98Gly) rs2150550178
NM_005763.4(AASS):c.380T>C (p.Leu127Pro)
NM_005763.4(AASS):c.388-125T>A rs2302338
NM_005763.4(AASS):c.394C>T (p.Arg132Cys)
NM_005763.4(AASS):c.436C>T (p.Arg146Trp)
NM_005763.4(AASS):c.459G>C (p.Trp153Cys)
NM_005763.4(AASS):c.466G>A (p.Val156Met)
NM_005763.4(AASS):c.473-7G>T
NM_005763.4(AASS):c.499G>T (p.Gly167Cys) rs762222413
NM_005763.4(AASS):c.540+14A>G
NM_005763.4(AASS):c.540+7G>A
NM_005763.4(AASS):c.543C>T (p.His181=)
NM_005763.4(AASS):c.608A>G (p.Tyr203Cys)
NM_005763.4(AASS):c.613A>T (p.Ile205Leu)
NM_005763.4(AASS):c.688-3T>C
NM_005763.4(AASS):c.709G>A (p.Glu237Lys)
NM_005763.4(AASS):c.709G>T (p.Glu237Ter)
NM_005763.4(AASS):c.714A>G (p.Leu238=)
NM_005763.4(AASS):c.71C>T (p.Ala24Val)
NM_005763.4(AASS):c.738T>C (p.His246=)
NM_005763.4(AASS):c.766+16T>C
NM_005763.4(AASS):c.76T>C (p.Leu26=)
NM_005763.4(AASS):c.81C>T (p.Ala27=)
NM_005763.4(AASS):c.895-10dup
NM_005763.4(AASS):c.99G>T (p.Val33=)

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