ClinVar Miner

List of variants in gene ALMS1 reported by Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine

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Gene type:
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Total variants: 103
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HGVS dbSNP
NC_000002.12:g.73451335C>G
NC_000002.12:g.73453050G>A
NC_000002.12:g.73490614A>G
NC_000002.12:g.73490857T>A
NC_000002.12:g.73572735A>C
NM_015120.4(ALMS1):c.10212T>A (p.Thr3404=) rs34617744
NM_015120.4(ALMS1):c.10275G>C (p.Lys3425Asn) rs34398445
NM_015120.4(ALMS1):c.10306A>G (p.Lys3436Glu) rs34071195
NM_015120.4(ALMS1):c.10338C>T (p.Pro3446=) rs78108069
NM_015120.4(ALMS1):c.10467A>G (p.Val3489=) rs28730858
NM_015120.4(ALMS1):c.10631C>G (p.Thr3544Ser) rs45501594
NM_015120.4(ALMS1):c.10754A>T (p.Gln3585Leu) rs144486524
NM_015120.4(ALMS1):c.10866G>C
NM_015120.4(ALMS1):c.10867T>C
NM_015120.4(ALMS1):c.10895G>A (p.Arg3632His) rs142558799
NM_015120.4(ALMS1):c.1093G>A
NM_015120.4(ALMS1):c.11057G>A (p.Ser3686Asn) rs11896293
NM_015120.4(ALMS1):c.11269G>A (p.Gly3757Ser) rs34927702
NM_015120.4(ALMS1):c.11356A>G (p.Ile3786Val) rs201819880
NM_015120.4(ALMS1):c.11466G>A (p.Glu3822=)
NM_015120.4(ALMS1):c.1147A>G (p.Thr383Ala) rs28730849
NM_015120.4(ALMS1):c.11526G>A (p.Glu3842=) rs35760114
NM_015120.4(ALMS1):c.11587T>C (p.Ser3863Pro) rs202227966
NM_015120.4(ALMS1):c.11644C>T (p.His3882Tyr) rs142278066
NM_015120.4(ALMS1):c.1164T>C (p.His388=) rs191091347
NM_015120.4(ALMS1):c.11663T>C (p.Ile3888Thr) rs45630562
NM_015120.4(ALMS1):c.11699A>G (p.Lys3900Arg) rs1347288383
NM_015120.4(ALMS1):c.11711G>A (p.Arg3904Gln) rs201673771
NM_015120.4(ALMS1):c.11748C>T (p.Ser3916=) rs147831309
NM_015120.4(ALMS1):c.1177C>T (p.Arg393Cys) rs3813227
NM_015120.4(ALMS1):c.11824G>A (p.Gly3942Ser) rs61741524
NM_015120.4(ALMS1):c.1185T>C (p.Tyr395=) rs139512700
NM_015120.4(ALMS1):c.11876-12T>C rs1320374
NM_015120.4(ALMS1):c.12092G>A (p.Arg4031Lys) rs1052161
NM_015120.4(ALMS1):c.12178C>T (p.Leu4060=) rs1052162
NM_015120.4(ALMS1):c.12231A>G
NM_015120.4(ALMS1):c.1270G>A (p.Val424Ile) rs45630557
NM_015120.4(ALMS1):c.1577_1579dup (p.Pro526_Leu527insPro) rs34628045
NM_015120.4(ALMS1):c.1841G>A (p.Gly614Asp) rs148040591
NM_015120.4(ALMS1):c.1874A>G (p.His625Arg) rs41291187
NM_015120.4(ALMS1):c.1902A>G (p.Gln634=) rs116033693
NM_015120.4(ALMS1):c.2018T>G (p.Val673Gly) rs2037814
NM_015120.4(ALMS1):c.2039A>G (p.Tyr680Cys) rs199573929
NM_015120.4(ALMS1):c.2193C>T (p.Phe731=) rs7598901
NM_015120.4(ALMS1):c.2322G>A (p.Leu774=) rs28730851
NM_015120.4(ALMS1):c.2419G>C (p.Val807Leu) rs138921247
NM_015120.4(ALMS1):c.2538C>T (p.Asp846=) rs77517267
NM_015120.4(ALMS1):c.2664A>G (p.Val888=) rs76266696
NM_015120.4(ALMS1):c.2668A>G (p.Ile890Val) rs377282102
NM_015120.4(ALMS1):c.2767C>T (p.Leu923=) rs143885319
NM_015120.4(ALMS1):c.2896T>C (p.Tyr966His) rs201180147
NM_015120.4(ALMS1):c.3196T>C (p.Ser1066Pro) rs28730852
NM_015120.4(ALMS1):c.3884G>C (p.Ser1295Thr) rs373835067
NM_015120.4(ALMS1):c.3897A>G (p.Gln1299=) rs112034360
NM_015120.4(ALMS1):c.4108A>G
NM_015120.4(ALMS1):c.4157C>G (p.Thr1386Arg) rs115517108
NM_015120.4(ALMS1):c.4182A>G (p.Gln1394=) rs6546836
NM_015120.4(ALMS1):c.4247G>C (p.Gly1416Ala) rs6546837
NM_015120.4(ALMS1):c.4391C>T
NM_015120.4(ALMS1):c.4608A>G (p.Gln1536=) rs144720929
NM_015120.4(ALMS1):c.474T>C (p.Cys158=) rs367648094
NM_015120.4(ALMS1):c.4965G>T (p.Lys1655Asn) rs28730853
NM_015120.4(ALMS1):c.4991C>T (p.Thr1664Ile) rs188807564
NM_015120.4(ALMS1):c.5172A>G (p.Gln1724=) rs75434052
NM_015120.4(ALMS1):c.5279A>G (p.Tyr1760Cys) rs200293447
NM_015120.4(ALMS1):c.5362A>G (p.Asn1788Asp) rs45608038
NM_015120.4(ALMS1):c.5436G>C (p.Lys1812Asn) rs78039319
NM_015120.4(ALMS1):c.5493A>G
NM_015120.4(ALMS1):c.5605C>A (p.Leu1869Ile) rs1553404102
NM_015120.4(ALMS1):c.5629A>G (p.Ile1877Val) rs6546838
NM_015120.4(ALMS1):c.5789G>A (p.Arg1930Gln) rs17009061
NM_015120.4(ALMS1):c.5884G>A
NM_015120.4(ALMS1):c.5921C>A (p.Pro1974Gln) rs199615641
NM_015120.4(ALMS1):c.6010A>G (p.Ile2004Val) rs7587103
NM_015120.4(ALMS1):c.6074A>C (p.Lys2025Thr) rs369339997
NM_015120.4(ALMS1):c.6215T>C (p.Ile2072Thr) rs10496192
NM_015120.4(ALMS1):c.6305C>T (p.Ser2102Leu) rs28730854
NM_015120.4(ALMS1):c.6339T>A (p.Ser2113Arg) rs6724782
NM_015120.4(ALMS1):c.6556C>T (p.Pro2186Ser) rs77555300
NM_015120.4(ALMS1):c.674C>A (p.Pro225His) rs11889925
NM_015120.4(ALMS1):c.6857G>C (p.Arg2286Pro) rs6546839
NM_015120.4(ALMS1):c.6857G>T (p.Arg2286Leu) rs6546839
NM_015120.4(ALMS1):c.6973A>G
NM_015120.4(ALMS1):c.7214C>T
NM_015120.4(ALMS1):c.7444G>A (p.Ala2482Thr) rs760068474
NM_015120.4(ALMS1):c.7727G>A (p.Ser2576Asn) rs3820700
NM_015120.4(ALMS1):c.78_83del (p.Glu28_Glu29del) rs754175473
NM_015120.4(ALMS1):c.8020G>C (p.Asp2674His) rs2017116
NM_015120.4(ALMS1):c.8125A>G (p.Met2709Val) rs371904071
NM_015120.4(ALMS1):c.8157C>T
NM_015120.4(ALMS1):c.8448A>G (p.Ser2816=) rs137932254
NM_015120.4(ALMS1):c.8484G>T (p.Arg2828Ser) rs2056486
NM_015120.4(ALMS1):c.8573A>G (p.Asn2858Ser) rs10193972
NM_015120.4(ALMS1):c.8745A>G (p.Val2915=) rs142611294
NM_015120.4(ALMS1):c.8838C>G (p.Asn2946Lys) rs35062203
NM_015120.4(ALMS1):c.8840A>G (p.His2947Arg) rs574785830
NM_015120.4(ALMS1):c.9564C>T (p.Thr3188=) rs11884776
NM_015120.4(ALMS1):c.9705G>A
NM_015120.4(ALMS1):c.9744A>G (p.Ser3248=) rs370844317
NM_015120.4(ALMS1):c.9785-9C>T rs10199680
NM_015120.4(ALMS1):c.9864A>G (p.Pro3288=) rs114687298
NM_015120.4(ALMS1):c.9868T>C
NM_015120.4(ALMS1):c.9917A>G (p.Asn3306Ser) rs142022233

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