ClinVar Miner

List of variants reported as benign for Alstrom syndrome by Natera, Inc.

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 45
Download table as spreadsheet
HGVS dbSNP
NM_001378454.1(ALMS1):c.10209T>A (p.Thr3403=) rs34617744
NM_001378454.1(ALMS1):c.10303A>G (p.Lys3435Glu) rs34071195
NM_001378454.1(ALMS1):c.10318A>G (p.Arg3440Gly) rs746702722
NM_001378454.1(ALMS1):c.10335C>T (p.Pro3445=) rs78108069
NM_001378454.1(ALMS1):c.11054G>A (p.Ser3685Asn) rs11896293
NM_001378454.1(ALMS1):c.11266G>A (p.Gly3756Ser) rs34927702
NM_001378454.1(ALMS1):c.1144A>G (p.Thr382Ala) rs28730849
NM_001378454.1(ALMS1):c.11481C>G (p.Ser3827Arg) rs549156484
NM_001378454.1(ALMS1):c.11523G>A (p.Glu3841=) rs35760114
NM_001378454.1(ALMS1):c.1174C>T (p.Arg392Cys) rs3813227
NM_001378454.1(ALMS1):c.12089G>A (p.Arg4030Lys) rs1052161
NM_001378454.1(ALMS1):c.12175C>T (p.Leu4059=) rs1052162
NM_001378454.1(ALMS1):c.1453A>G (p.Ile485Val) rs73945001
NM_001378454.1(ALMS1):c.1899A>G (p.Gln633=) rs116033693
NM_001378454.1(ALMS1):c.2015T>G (p.Val672Gly) rs2037814
NM_001378454.1(ALMS1):c.2190C>T (p.Phe730=) rs7598901
NM_001378454.1(ALMS1):c.2319G>A (p.Leu773=) rs28730851
NM_001378454.1(ALMS1):c.2354A>G (p.Glu785Gly) rs17848880
NM_001378454.1(ALMS1):c.2535C>T (p.Asp845=) rs77517267
NM_001378454.1(ALMS1):c.2661A>G (p.Val887=) rs76266696
NM_001378454.1(ALMS1):c.3894A>G (p.Gln1298=) rs112034360
NM_001378454.1(ALMS1):c.4154C>G (p.Thr1385Arg) rs115517108
NM_001378454.1(ALMS1):c.4179A>G (p.Gln1393=) rs6546836
NM_001378454.1(ALMS1):c.4244G>C (p.Gly1415Ala) rs6546837
NM_001378454.1(ALMS1):c.4962G>T (p.Lys1654Asn) rs28730853
NM_001378454.1(ALMS1):c.5169A>G (p.Gln1723=) rs75434052
NM_001378454.1(ALMS1):c.5433G>C (p.Lys1811Asn) rs78039319
NM_001378454.1(ALMS1):c.5463G>A (p.Pro1821=) rs62151609
NM_001378454.1(ALMS1):c.5626A>G (p.Ile1876Val) rs6546838
NM_001378454.1(ALMS1):c.5786G>A (p.Arg1929Gln) rs17009061
NM_001378454.1(ALMS1):c.6212T>C (p.Ile2071Thr) rs10496192
NM_001378454.1(ALMS1):c.6302C>T (p.Ser2101Leu) rs28730854
NM_001378454.1(ALMS1):c.6336T>A (p.Ser2112Arg) rs6724782
NM_001378454.1(ALMS1):c.671C>A (p.Pro224His) rs11889925
NM_001378454.1(ALMS1):c.6854G>C (p.Arg2285Pro) rs6546839
NM_001378454.1(ALMS1):c.7724G>A (p.Ser2575Asn) rs3820700
NM_001378454.1(ALMS1):c.8017G>C (p.Asp2673His) rs2017116
NM_001378454.1(ALMS1):c.8481G>T (p.Arg2827Ser) rs2056486
NM_001378454.1(ALMS1):c.8487T>C (p.Asn2829=)
NM_001378454.1(ALMS1):c.8570A>G (p.Asn2857Ser) rs10193972
NM_001378454.1(ALMS1):c.9561C>T (p.Thr3187=) rs11884776
NM_001378454.1(ALMS1):c.975G>A (p.Ser325=) rs370267673
NM_001378454.1(ALMS1):c.9782-9C>T rs10199680
NM_001378454.1(ALMS1):c.9886A>G (p.Thr3296Ala) rs58806616
NM_001378454.1(ALMS1):c.9914A>G (p.Asn3305Ser) rs142022233

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.