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: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants with conflicting interpretations: 26

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HGVS	dbSNP	gnomAD frequency
NM_001378454.1(ALMS1):c.10303A>G (p.Lys3435Glu)	rs34071195	0.01772
NM_001378454.1(ALMS1):c.5433G>C (p.Lys1811Asn)	rs78039319	0.01071
NM_001378454.1(ALMS1):c.10628C>G (p.Thr3543Ser)	rs45501594	0.00688
NM_001378454.1(ALMS1):c.11872+18G>A	rs139647347	0.00482
NM_001378454.1(ALMS1):c.6464A>G (p.Asp2155Gly)	rs58093963	0.00429
NM_001378454.1(ALMS1):c.9886A>G (p.Thr3296Ala)	rs58806616	0.00296
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.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	0.00028
NM_001378454.1(ALMS1):c.4228G>C (p.Ala1410Pro)	rs201517720	0.00022
NM_001378454.1(ALMS1):c.109G>C (p.Val37Leu)	rs774784126	0.00011
NM_001378454.1(ALMS1):c.10318A>G (p.Arg3440Gly)	rs746702722	0.00001
NM_001378454.1(ALMS1):c.9538C>G (p.Arg3180Gly)	rs563393715	0.00001
NM_001378454.1(ALMS1):c.10214-12dup	rs543855806
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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