ClinVar Miner

List of variants in gene ALMS1 reported by Eurofins NTD LLC (GA)

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Gene type:
ClinVar version:
Total variants: 59
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HGVS dbSNP gnomAD frequency
NM_001378454.1(ALMS1):c.5463G>A (p.Pro1821=) rs62151609 0.00915
NM_001378454.1(ALMS1):c.10628C>G (p.Thr3543Ser) rs45501594 0.00688
NM_001378454.1(ALMS1):c.11821G>A (p.Gly3941Ser) rs61741524 0.00422
NM_001378454.1(ALMS1):c.10751A>T (p.Gln3584Leu) rs144486524 0.00310
NM_001378454.1(ALMS1):c.10464A>G (p.Val3488=) rs28730858 0.00297
NM_001378454.1(ALMS1):c.9886A>G (p.Thr3296Ala) rs58806616 0.00296
NM_001378454.1(ALMS1):c.4988C>T (p.Thr1663Ile) rs188807564 0.00267
NM_001378454.1(ALMS1):c.1838G>A (p.Gly613Asp) rs148040591 0.00225
NM_001378454.1(ALMS1):c.8445A>G (p.Ser2815=) rs137932254 0.00215
NM_001378454.1(ALMS1):c.1453A>G (p.Ile485Val) rs73945001 0.00195
NM_001378454.1(ALMS1):c.2036A>G (p.Tyr679Cys) rs199573929 0.00146
NM_001378454.1(ALMS1):c.3732G>A (p.Lys1244=) rs140670994 0.00138
NM_001378454.1(ALMS1):c.11745C>T (p.Ser3915=) rs147831309 0.00121
NM_001378454.1(ALMS1):c.10788G>C (p.Val3596=) rs45445398 0.00114
NM_001378454.1(ALMS1):c.4344A>G (p.Leu1448=) rs200459890 0.00080
NM_001378454.1(ALMS1):c.3305A>C (p.Lys1102Thr) rs185586839 0.00066
NM_001378454.1(ALMS1):c.4134T>C (p.Ser1378=) rs200491758 0.00066
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.5462C>T (p.Pro1821Leu) rs200266868 0.00064
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.3375A>G (p.Val1125=) rs189914793 0.00037
NM_001378454.1(ALMS1):c.8359A>G (p.Ile2787Val) rs200075429 0.00036
NM_001378454.1(ALMS1):c.8453C>T (p.Thr2818Ile) rs373211307 0.00032
NM_001378454.1(ALMS1):c.9589T>A (p.Ser3197Thr) rs369682692 0.00026
NM_001378454.1(ALMS1):c.280C>T (p.Pro94Ser) rs775431837 0.00020
NM_001378454.1(ALMS1):c.3092C>G (p.Thr1031Ser) rs199922877 0.00020
NM_001378454.1(ALMS1):c.11328C>T (p.His3776=) rs45596541 0.00016
NM_001378454.1(ALMS1):c.6537C>T (p.Thr2179=) rs371511963 0.00010
NM_001378454.1(ALMS1):c.11017C>A (p.Leu3673Ile) rs549757247 0.00009
NM_001378454.1(ALMS1):c.10772del (p.Thr3591fs) rs387906312 0.00004
NM_001378454.1(ALMS1):c.11463G>A (p.Glu3821=) rs750087396 0.00004
NM_001378454.1(ALMS1):c.9263A>G (p.His3088Arg) rs376083621 0.00004
NM_001378454.1(ALMS1):c.2515G>A (p.Ala839Thr) rs1356972872 0.00003
NM_001378454.1(ALMS1):c.3432C>T (p.Tyr1144=) rs768929630 0.00003
NM_001378454.1(ALMS1):c.7013C>T (p.Thr2338Ile) rs373004988 0.00003
NM_001378454.1(ALMS1):c.820A>C (p.Ser274Arg) rs761800808 0.00003
NM_001378454.1(ALMS1):c.813G>A (p.Ser271=) rs775482774 0.00002
NM_001378454.1(ALMS1):c.9050A>G (p.Asn3017Ser) rs768218725 0.00002
NM_001378454.1(ALMS1):c.4430C>T (p.Ser1477Leu) rs794727926 0.00001
NM_001378454.1(ALMS1):c.6199C>G (p.Gln2067Glu) rs886042711 0.00001
NM_001378454.1(ALMS1):c.6827G>A (p.Arg2276Gln) rs200979896 0.00001
NM_001378454.1(ALMS1):c.10142T>G (p.Ile3381Ser) rs1558693233
NM_001378454.1(ALMS1):c.2038C>G (p.Arg680Gly) rs115444326
NM_001378454.1(ALMS1):c.3572del (p.Phe1191fs) rs1558648759
NM_001378454.1(ALMS1):c.36GGA[10] (p.Glu26_Glu28del) rs55889738
NM_001378454.1(ALMS1):c.36GGA[12] (p.Glu28del) rs55889738
NM_001378454.1(ALMS1):c.36GGA[15] (p.Glu27_Glu28dup) rs55889738
NM_001378454.1(ALMS1):c.36GGA[16] (p.Glu26_Glu28dup) rs55889738
NM_001378454.1(ALMS1):c.36_74= (p.Leu12_Glu25=) rs55889738
NM_001378454.1(ALMS1):c.4843T>G (p.Leu1615Val) rs375736124
NM_001378454.1(ALMS1):c.5056G>C (p.Glu1686Gln) rs1553403999
NM_001378454.1(ALMS1):c.5656A>T (p.Thr1886Ser) rs886043799
NM_001378454.1(ALMS1):c.6211A>G (p.Ile2071Val) rs1020163869
NM_001378454.1(ALMS1):c.6960G>A (p.Gln2320=) rs794727925
NM_001378454.1(ALMS1):c.7654del (p.Arg2552fs) rs1553404662
NM_001378454.1(ALMS1):c.8005C>T (p.Arg2669Ter) rs549857076
NM_001378454.1(ALMS1):c.8736T>G (p.Asp2912Glu) rs189758049

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