ClinVar Miner

Variants in gene ALMS1 with conflicting interpretations "benign" and "uncertain significance"

Submission 1 (benign) minimum review status: Submission 1 (benign) method:
Submission 2 (uncertain significance) minimum review status: Submission 2 (uncertain significance) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 30
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HGVS dbSNP gnomAD frequency
NM_001378454.1(ALMS1):c.10303A>G (p.Lys3435Glu) rs34071195 0.01643
NM_001378454.1(ALMS1):c.5433G>C (p.Lys1811Asn) rs78039319 0.00994
NM_001378454.1(ALMS1):c.10628C>G (p.Thr3543Ser) rs45501594 0.00668
NM_001378454.1(ALMS1):c.11872+18G>A rs139647347 0.00482
NM_001378454.1(ALMS1):c.6464A>G (p.Asp2155Gly) rs58093963 0.00401
NM_001378454.1(ALMS1):c.9886A>G (p.Thr3296Ala) rs58806616 0.00273
NM_001378454.1(ALMS1):c.8445A>G (p.Ser2815=) rs137932254 0.00218
NM_001378454.1(ALMS1):c.1838G>A (p.Gly613Asp) rs148040591 0.00201
NM_001378454.1(ALMS1):c.1453A>G (p.Ile485Val) rs73945001 0.00195
NM_001378454.1(ALMS1):c.11641C>T (p.His3881Tyr) rs142278066 0.00102
NM_001378454.1(ALMS1):c.5189A>G (p.Glu1730Gly) rs201390755 0.00065
NM_001378454.1(ALMS1):c.3307C>G (p.Pro1103Ala) rs200257398 0.00038
NM_001378454.1(ALMS1):c.10238A>G (p.Glu3413Gly) rs184779459 0.00032
NM_001378454.1(ALMS1):c.861C>T (p.Asp287=) rs377281121 0.00025
NM_001378454.1(ALMS1):c.4228G>C (p.Ala1410Pro) rs201517720 0.00023
NM_001378454.1(ALMS1):c.3278C>T (p.Pro1093Leu) rs766187468 0.00021
NM_001378454.1(ALMS1):c.109G>C (p.Val37Leu) rs774784126 0.00010
NM_001378454.1(ALMS1):c.9538C>G (p.Arg3180Gly) rs563393715 0.00009
NM_001378454.1(ALMS1):c.9733G>A (p.Ala3245Thr) rs200432874 0.00007
NM_001378454.1(ALMS1):c.10318A>G (p.Arg3440Gly) rs746702722 0.00001
NM_001378454.1(ALMS1):c.1126A>T (p.Thr376Ser) rs376750978 0.00001
NM_001378454.1(ALMS1):c.3477G>T (p.Leu1159Phe) rs575644902 0.00001
NM_001378454.1(ALMS1):c.9637C>G (p.Leu3213Val) rs575305602 0.00001
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.36GGA[8] (p.Glu24_Glu28del) rs55889738
NM_001378454.1(ALMS1):c.75_80del (p.Glu27_Glu28del) rs754175473
NM_001378454.1(ALMS1):c.91GCG[7] (p.Ala34_Ala35dup) rs746896173
NM_001378454.1(ALMS1):c.9540-7dup rs750386293
NM_001378454.1(ALMS1):c.9782-11dup rs1553414055

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