ClinVar Miner

List of variants in gene ALMS1 reported as pathogenic by GeneDx

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Gene type:
ClinVar version:
Total variants: 48
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HGVS dbSNP gnomAD frequency
NM_001378454.1(ALMS1):c.11446C>T (p.Gln3816Ter) rs940576720 0.00005
NM_001378454.1(ALMS1):c.10480C>T (p.Gln3494Ter) rs772624348 0.00004
NM_001378454.1(ALMS1):c.10772del (p.Thr3591fs) rs387906312 0.00004
NM_001378454.1(ALMS1):c.11413C>T (p.Arg3805Ter) rs376091780 0.00004
NM_001378454.1(ALMS1):c.2326C>T (p.Gln776Ter) rs758195453 0.00003
NM_001378454.1(ALMS1):c.10822C>T (p.Arg3608Ter) rs1192396248 0.00001
NM_001378454.1(ALMS1):c.10882C>T (p.Arg3628Ter) rs1473611414 0.00001
NM_001378454.1(ALMS1):c.2087C>A (p.Ser696Ter) rs1490504758 0.00001
NM_001378454.1(ALMS1):c.2819T>A (p.Leu940Ter) rs539612316 0.00001
NM_001378454.1(ALMS1):c.4888C>T (p.Gln1630Ter) rs974309886 0.00001
NM_001378454.1(ALMS1):c.5142T>G (p.Tyr1714Ter) rs772136379 0.00001
NM_001378454.1(ALMS1):c.619A>T (p.Arg207Ter) rs771994237 0.00001
NM_001378454.1(ALMS1):c.6831C>A (p.Cys2277Ter) rs761713440 0.00001
NM_001378454.1(ALMS1):c.797G>A (p.Trp266Ter) rs1558639105 0.00001
NM_001378454.1(ALMS1):c.8161C>T (p.Arg2721Ter) rs193919340 0.00001
NM_001378454.1(ALMS1):c.10566_10567del (p.His3522fs) rs1163532771
NM_001378454.1(ALMS1):c.11204C>A (p.Ser3735Ter) rs367877017
NM_001378454.1(ALMS1):c.11308_11309del (p.Thr3769_Asp3770insTer) rs1553418578
NM_001378454.1(ALMS1):c.11313_11316del (p.Glu3772fs) rs747272625
NM_001378454.1(ALMS1):c.11382del (p.Phe3794fs) rs768759374
NM_001378454.1(ALMS1):c.11394_11395del (p.Arg3798fs) rs1553418598
NM_001378454.1(ALMS1):c.11615_11616del (p.Ser3872fs) rs1476205467
NM_001378454.1(ALMS1):c.11765del (p.Asn3922fs) rs1247974278
NM_001378454.1(ALMS1):c.1579G>T (p.Glu527Ter) rs759021934
NM_001378454.1(ALMS1):c.1625T>A (p.Leu542Ter) rs1347176614
NM_001378454.1(ALMS1):c.1642del (p.Thr548fs) rs2466091816
NM_001378454.1(ALMS1):c.2038C>T (p.Arg680Ter) rs115444326
NM_001378454.1(ALMS1):c.2138_2139del (p.Ser713fs) rs387906313
NM_001378454.1(ALMS1):c.2176dup (p.Tyr726fs) rs771459937
NM_001378454.1(ALMS1):c.2617C>T (p.Gln873Ter) rs1572932845
NM_001378454.1(ALMS1):c.2726C>G (p.Ser909Ter) rs746640196
NM_001378454.1(ALMS1):c.3013_3014del (p.Ser1004_His1005insTer) rs1572933385
NM_001378454.1(ALMS1):c.3016del (p.Arg1006fs)
NM_001378454.1(ALMS1):c.3248_3255del (p.Ala1083fs) rs755944454
NM_001378454.1(ALMS1):c.3899C>A (p.Ser1300Ter) rs769219669
NM_001378454.1(ALMS1):c.4249del (p.Arg1417fs) rs1553403851
NM_001378454.1(ALMS1):c.4715C>G (p.Ser1572Ter) rs2103783763
NM_001378454.1(ALMS1):c.4914_4917del (p.Asn1638fs) rs779366889
NM_001378454.1(ALMS1):c.5002del (p.Arg1668fs) rs1572936092
NM_001378454.1(ALMS1):c.6302C>A (p.Ser2101Ter) rs28730854
NM_001378454.1(ALMS1):c.6319C>T (p.Gln2107Ter) rs2466108740
NM_001378454.1(ALMS1):c.6433C>T (p.Arg2145Ter) rs770558150
NM_001378454.1(ALMS1):c.7129dup (p.Thr2377fs) rs1179374287
NM_001378454.1(ALMS1):c.7185_7189del (p.Cys2395fs)
NM_001378454.1(ALMS1):c.7372_7373del (p.Thr2457_Asp2458insTer) rs1225343345
NM_001378454.1(ALMS1):c.805C>T (p.Arg269Ter) rs1426009756
NM_001378454.1(ALMS1):c.8174_8184del (p.Cys2725fs) rs2103890894
NM_001378454.1(ALMS1):c.925C>T (p.Gln309Ter) rs1558639213

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