ClinVar Miner

List of variants in gene ALMS1 reported as likely benign by PreventionGenetics, part of Exact Sciences

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Gene type:
ClinVar version:
Total variants: 36
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HGVS dbSNP gnomAD frequency
NM_001378454.1(ALMS1):c.2190C>T (p.Phe730=) rs7598901 0.49457
NM_001378454.1(ALMS1):c.11772T>C (p.Asp3924=) rs201924342 0.00021
NM_001378454.1(ALMS1):c.8589A>G (p.Leu2863=) rs778918786 0.00002
NM_001378454.1(ALMS1):c.3930T>C (p.Ala1310=) rs1558649057 0.00001
NM_001378454.1(ALMS1):c.*3C>G
NM_001378454.1(ALMS1):c.10131A>G (p.Lys3377=)
NM_001378454.1(ALMS1):c.10605G>A (p.Met3535Ile)
NM_001378454.1(ALMS1):c.1123A>T (p.Ile375Leu) rs886038611
NM_001378454.1(ALMS1):c.11259C>T (p.Ile3753=)
NM_001378454.1(ALMS1):c.11759A>G (p.Glu3920Gly)
NM_001378454.1(ALMS1):c.11814C>G (p.Leu3938=)
NM_001378454.1(ALMS1):c.1264G>A (p.Asp422Asn) rs886056297
NM_001378454.1(ALMS1):c.1809T>G (p.Ala603=)
NM_001378454.1(ALMS1):c.1971G>A (p.Gln657=)
NM_001378454.1(ALMS1):c.3260C>G (p.Thr1087Ser)
NM_001378454.1(ALMS1):c.36GGA[19] (p.Glu23_Glu28dup) rs55889738
NM_001378454.1(ALMS1):c.384A>G (p.Thr128=) rs1671018024
NM_001378454.1(ALMS1):c.429G>A (p.Gln143=)
NM_001378454.1(ALMS1):c.468T>C (p.His156=)
NM_001378454.1(ALMS1):c.4725G>A (p.Glu1575=)
NM_001378454.1(ALMS1):c.5115A>G (p.Pro1705=) rs2103785134
NM_001378454.1(ALMS1):c.5170C>T (p.Gln1724Ter)
NM_001378454.1(ALMS1):c.5183A>G (p.Asp1728Gly) rs879255405
NM_001378454.1(ALMS1):c.5931G>C (p.Lys1977Asn) rs886056305
NM_001378454.1(ALMS1):c.6139T>A (p.Ser2047Thr) rs886056308
NM_001378454.1(ALMS1):c.6297G>A (p.Glu2099=)
NM_001378454.1(ALMS1):c.6471A>G (p.Pro2157=)
NM_001378454.1(ALMS1):c.7713A>G (p.Glu2571=)
NM_001378454.1(ALMS1):c.8268A>G (p.Glu2756=) rs886038616
NM_001378454.1(ALMS1):c.8439A>G (p.Glu2813=) rs886038617
NM_001378454.1(ALMS1):c.8724T>C (p.Pro2908=)
NM_001378454.1(ALMS1):c.8816A>G (p.Asp2939Gly) rs886056313
NM_001378454.1(ALMS1):c.9315A>G (p.Lys3105=)
NM_001378454.1(ALMS1):c.9354A>G (p.Gly3118=)
NM_001378454.1(ALMS1):c.9405T>C (p.Ser3135=)
NM_001378454.1(ALMS1):c.9761C>G (p.Thr3254Ser)

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