ClinVar Miner

List of variants in gene ALMS1 reported by CeGaT Center for Human Genetics Tuebingen

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Gene type:
ClinVar version:
Total variants: 85
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HGVS dbSNP gnomAD frequency
NM_001378454.1(ALMS1):c.5359A>G (p.Asn1787Asp) rs45608038 0.01548
NM_001378454.1(ALMS1):c.1144A>G (p.Thr382Ala) rs28730849 0.01527
NM_001378454.1(ALMS1):c.5463G>A (p.Pro1821=) rs62151609 0.00915
NM_001378454.1(ALMS1):c.8835C>G (p.Asn2945Lys) rs35062203 0.00814
NM_001378454.1(ALMS1):c.10628C>G (p.Thr3543Ser) rs45501594 0.00688
NM_001378454.1(ALMS1):c.10751A>T (p.Gln3584Leu) rs144486524 0.00310
NM_001378454.1(ALMS1):c.1267G>A (p.Val423Ile) rs45630557 0.00285
NM_001378454.1(ALMS1):c.4988C>T (p.Thr1663Ile) rs188807564 0.00267
NM_001378454.1(ALMS1):c.2730C>T (p.His910=) rs189923349 0.00245
NM_001378454.1(ALMS1):c.9822C>G (p.Thr3274=) rs201446579 0.00245
NM_001378454.1(ALMS1):c.8445A>G (p.Ser2815=) rs137932254 0.00215
NM_001378454.1(ALMS1):c.3311G>A (p.Gly1104Asp) rs201074268 0.00204
NM_001378454.1(ALMS1):c.1453A>G (p.Ile485Val) rs73945001 0.00195
NM_001378454.1(ALMS1):c.11601C>T (p.Phe3867=) rs80009262 0.00162
NM_001378454.1(ALMS1):c.9914A>G (p.Asn3305Ser) rs142022233 0.00158
NM_001378454.1(ALMS1):c.8274A>G (p.Gln2758=) rs181226362 0.00143
NM_001378454.1(ALMS1):c.11745C>T (p.Ser3915=) rs147831309 0.00121
NM_001378454.1(ALMS1):c.945T>C (p.Ser315=) rs183390773 0.00119
NM_001378454.1(ALMS1):c.10788G>C (p.Val3596=) rs45445398 0.00114
NM_001378454.1(ALMS1):c.11641C>T (p.His3881Tyr) rs142278066 0.00102
NM_001378454.1(ALMS1):c.3942A>C (p.Ser1314=) rs186449817 0.00065
NM_001378454.1(ALMS1):c.5189A>G (p.Glu1730Gly) rs201390755 0.00065
NM_001378454.1(ALMS1):c.11223G>A (p.Glu3741=) rs28730859 0.00061
NM_001378454.1(ALMS1):c.8411G>A (p.Arg2804His) rs201252809 0.00057
NM_001378454.1(ALMS1):c.8942A>G (p.Asn2981Ser) rs200390821 0.00057
NM_001378454.1(ALMS1):c.9712C>T (p.Arg3238Cys) rs201252375 0.00053
NM_001378454.1(ALMS1):c.11353A>G (p.Ile3785Val) rs201819880 0.00048
NM_001378454.1(ALMS1):c.12438G>T (p.Arg4146=) rs35902379 0.00041
NM_001378454.1(ALMS1):c.1609C>G (p.Leu537Val) rs202111717 0.00041
NM_001378454.1(ALMS1):c.3307C>G (p.Pro1103Ala) rs200257398 0.00038
NM_001378454.1(ALMS1):c.4329G>T (p.Leu1443Phe) rs192499639 0.00036
NM_001378454.1(ALMS1):c.9861A>G (p.Pro3287=) rs114687298 0.00034
NM_001378454.1(ALMS1):c.1161T>C (p.His387=) rs191091347 0.00030
NM_001378454.1(ALMS1):c.11070C>T (p.Gly3690=) rs371329585 0.00023
NM_001378454.1(ALMS1):c.11411G>C (p.Arg3804Thr) rs201028172 0.00019
NM_001378454.1(ALMS1):c.5297A>G (p.Asn1766Ser) rs192863498 0.00019
NM_001378454.1(ALMS1):c.4149A>G (p.Gln1383=) rs370508895 0.00016
NM_001378454.1(ALMS1):c.9633G>A (p.Lys3211=) rs373013570 0.00014
NM_001378454.1(ALMS1):c.6537C>T (p.Thr2179=) rs371511963 0.00010
NM_001378454.1(ALMS1):c.9600A>C (p.Ala3200=) rs113808259 0.00010
NM_001378454.1(ALMS1):c.4068G>C (p.Glu1356Asp) rs376812264 0.00009
NM_001378454.1(ALMS1):c.7140A>G (p.Gln2380=) rs375593700 0.00008
NM_001378454.1(ALMS1):c.8730T>C (p.His2910=) rs374693631 0.00007
NM_001378454.1(ALMS1):c.3860C>T (p.Ser1287Leu) rs375231416 0.00005
NM_001378454.1(ALMS1):c.60G>A (p.Glu20=) rs183407241 0.00005
NM_001378454.1(ALMS1):c.1815T>G (p.Pro605=) rs983651117 0.00004
NM_001378454.1(ALMS1):c.2269C>T (p.Pro757Ser) rs200827630 0.00004
NM_001378454.1(ALMS1):c.6926C>T (p.Thr2309Met) rs147001219 0.00004
NM_001378454.1(ALMS1):c.9173A>G (p.Lys3058Arg) rs149329669 0.00004
NM_001378454.1(ALMS1):c.12363-18A>C rs199968770 0.00003
NM_001378454.1(ALMS1):c.4153dup (p.Thr1385fs) rs797045228 0.00002
NM_001378454.1(ALMS1):c.8928A>G (p.Val2976=) rs373374154 0.00002
NM_001378454.1(ALMS1):c.10440A>G (p.Ala3480=) rs375046790 0.00001
NM_001378454.1(ALMS1):c.10822C>T (p.Arg3608Ter) rs1192396248 0.00001
NM_001378454.1(ALMS1):c.1732del (p.Arg578fs) rs777476179 0.00001
NM_001378454.1(ALMS1):c.2676A>G (p.Gly892=) rs745887923 0.00001
NM_001378454.1(ALMS1):c.4057C>A (p.Pro1353Thr) rs1005994594 0.00001
NM_001378454.1(ALMS1):c.5142T>G (p.Tyr1714Ter) rs772136379 0.00001
NM_001378454.1(ALMS1):c.5380C>T (p.Gln1794Ter) rs759024519 0.00001
NM_001378454.1(ALMS1):c.6483A>G (p.Leu2161=) rs750552165 0.00001
NM_001378454.1(ALMS1):c.7559A>G (p.Asn2520Ser) rs377085127 0.00001
NM_001378454.1(ALMS1):c.7788A>C (p.Gln2596His) rs752127434 0.00001
NM_001378454.1(ALMS1):c.10146dup (p.Ser3383fs) rs1553416872
NM_001378454.1(ALMS1):c.11413C>A (p.Arg3805=) rs376091780
NM_001378454.1(ALMS1):c.1196_1202del (p.Thr399fs) rs761292021
NM_001378454.1(ALMS1):c.1625T>A (p.Leu542Ter) rs1347176614
NM_001378454.1(ALMS1):c.2238T>G (p.Thr746=)
NM_001378454.1(ALMS1):c.2298A>G (p.Gln766=)
NM_001378454.1(ALMS1):c.2301A>G (p.Arg767=)
NM_001378454.1(ALMS1):c.2304A>G (p.Glu768=)
NM_001378454.1(ALMS1):c.2969A>G (p.Gln990Arg)
NM_001378454.1(ALMS1):c.3661G>A (p.Val1221Ile) rs774268493
NM_001378454.1(ALMS1):c.36GGA[9] (p.Glu25_Glu28del) rs55889738
NM_001378454.1(ALMS1):c.5148G>T (p.Glu1716Asp)
NM_001378454.1(ALMS1):c.550del (p.Glu183_Val184insTer) rs1671239229
NM_001378454.1(ALMS1):c.6086C>A (p.Thr2029Asn) rs1671971138
NM_001378454.1(ALMS1):c.6302C>A (p.Ser2101Ter) rs28730854
NM_001378454.1(ALMS1):c.7418G>A (p.Gly2473Asp) rs1348368424
NM_001378454.1(ALMS1):c.7641_7644dup (p.Gly2549fs)
NM_001378454.1(ALMS1):c.8414dup (p.Gln2807fs) rs1057519133
NM_001378454.1(ALMS1):c.8667A>G (p.Glu2889=) rs2103892726
NM_001378454.1(ALMS1):c.9574T>C (p.Phe3192Leu) rs1294949042
NM_001378454.1(ALMS1):c.964G>T (p.Glu322Ter) rs752084128
NM_001378454.1(ALMS1):c.9767C>G (p.Ser3256Cys) rs200922218
NM_001378454.1(ALMS1):c.9908-1G>A

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