ClinVar Miner

List of variants in gene ALMS1 reported by EGL Genetic Diagnostics,Eurofins Clinical Diagnostics

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Total variants: 60
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HGVS dbSNP
NM_015120.4(ALMS1):c.10145T>G (p.Ile3382Ser) rs1558693233
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.10775del (p.Thr3592fs) rs387906312
NM_015120.4(ALMS1):c.10791G>C (p.Val3597=) rs45445398
NM_015120.4(ALMS1):c.11020C>A (p.Leu3674Ile) rs549757247
NM_015120.4(ALMS1):c.11331C>T (p.His3777=) rs45596541
NM_015120.4(ALMS1):c.11466G>A (p.Glu3822=)
NM_015120.4(ALMS1):c.11748C>T (p.Ser3916=) rs147831309
NM_015120.4(ALMS1):c.11824G>A (p.Gly3942Ser) rs61741524
NM_015120.4(ALMS1):c.12039C>A (p.Asp4013Glu) rs370981817
NM_015120.4(ALMS1):c.12441G>T (p.Arg4147=) rs35902379
NM_015120.4(ALMS1):c.1456A>G (p.Ile486Val) rs73945001
NM_015120.4(ALMS1):c.1612C>G (p.Leu538Val) rs202111717
NM_015120.4(ALMS1):c.1841G>A (p.Gly614Asp) rs148040591
NM_015120.4(ALMS1):c.2039A>G (p.Tyr680Cys) rs199573929
NM_015120.4(ALMS1):c.2041C>G (p.Arg681Gly) rs115444326
NM_015120.4(ALMS1):c.2518G>A (p.Ala840Thr) rs1356972872
NM_015120.4(ALMS1):c.283C>T (p.Pro95Ser)
NM_015120.4(ALMS1):c.3095C>G (p.Thr1032Ser) rs199922877
NM_015120.4(ALMS1):c.3308A>C (p.Lys1103Thr) rs185586839
NM_015120.4(ALMS1):c.3378A>G (p.Val1126=) rs189914793
NM_015120.4(ALMS1):c.3435C>T (p.Tyr1145=) rs768929630
NM_015120.4(ALMS1):c.3575del (p.Phe1192fs) rs1558648759
NM_015120.4(ALMS1):c.36_38GGA[11] (p.Glu27_Glu29del) rs55889738
NM_015120.4(ALMS1):c.36_38GGA[13] (p.Glu29del) rs55889738
NM_015120.4(ALMS1):c.36_38GGA[16] (p.Glu28_Glu29dup) rs55889738
NM_015120.4(ALMS1):c.36_38GGA[17] (p.Glu27_Glu29dup) rs55889738
NM_015120.4(ALMS1):c.3735G>A (p.Lys1245=) rs140670994
NM_015120.4(ALMS1):c.3945A>C (p.Ser1315=) rs186449817
NM_015120.4(ALMS1):c.39_77= (p.Glu13_Glu26=) rs55889738
NM_015120.4(ALMS1):c.4137T>C (p.Ser1379=) rs200491758
NM_015120.4(ALMS1):c.4347A>G (p.Leu1449=) rs200459890
NM_015120.4(ALMS1):c.4433C>T (p.Ser1478Leu) rs794727926
NM_015120.4(ALMS1):c.4846T>G (p.Leu1616Val)
NM_015120.4(ALMS1):c.4991C>T (p.Thr1664Ile) rs188807564
NM_015120.4(ALMS1):c.5059G>C (p.Glu1687Gln) rs1553403999
NM_015120.4(ALMS1):c.5192A>G (p.Glu1731Gly) rs201390755
NM_015120.4(ALMS1):c.5465C>T (p.Pro1822Leu) rs200266868
NM_015120.4(ALMS1):c.5466G>A (p.Pro1822=) rs62151609
NM_015120.4(ALMS1):c.5659A>T (p.Thr1887Ser) rs886043799
NM_015120.4(ALMS1):c.6202C>G (p.Gln2068Glu) rs886042711
NM_015120.4(ALMS1):c.6214A>G (p.Ile2072Val)
NM_015120.4(ALMS1):c.6540C>T (p.Thr2180=) rs371511963
NM_015120.4(ALMS1):c.6830G>A (p.Arg2277Gln) rs200979896
NM_015120.4(ALMS1):c.6963G>A (p.Gln2321=) rs794727925
NM_015120.4(ALMS1):c.7016C>T (p.Thr2339Ile) rs373004988
NM_015120.4(ALMS1):c.7657del (p.Arg2553fs) rs1553404662
NM_015120.4(ALMS1):c.8008C>T (p.Arg2670Ter) rs549857076
NM_015120.4(ALMS1):c.816G>A (p.Ser272=) rs775482774
NM_015120.4(ALMS1):c.823A>C (p.Ser275Arg)
NM_015120.4(ALMS1):c.8362A>G (p.Ile2788Val) rs200075429
NM_015120.4(ALMS1):c.8448A>G (p.Ser2816=) rs137932254
NM_015120.4(ALMS1):c.8456C>T (p.Thr2819Ile) rs373211307
NM_015120.4(ALMS1):c.8739T>G (p.Asp2913Glu) rs189758049
NM_015120.4(ALMS1):c.9053A>G (p.Asn3018Ser) rs768218725
NM_015120.4(ALMS1):c.9266A>G (p.His3089Arg) rs376083621
NM_015120.4(ALMS1):c.9592T>A (p.Ser3198Thr) rs369682692
NM_015120.4(ALMS1):c.9889A>G (p.Thr3297Ala) rs58806616

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