List of variants in gene ALMS1 reported as benign by GeneDx

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 94

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HGVS	dbSNP	gnomAD frequency
NM_001378454.1(ALMS1):c.2015T>G (p.Val672Gly)	rs2037814	0.87820
NM_001378454.1(ALMS1):c.764+20T>A	rs1881246	0.49506
NM_001378454.1(ALMS1):c.2190C>T (p.Phe730=)	rs7598901	0.49457
NM_001378454.1(ALMS1):c.6336T>A (p.Ser2112Arg)	rs6724782	0.40522
NM_001378454.1(ALMS1):c.5626A>G (p.Ile1876Val)	rs6546838	0.40153
NM_001378454.1(ALMS1):c.8481G>T (p.Arg2827Ser)	rs2056486	0.39967
NM_001378454.1(ALMS1):c.8570A>G (p.Asn2857Ser)	rs10193972	0.39950
NM_001378454.1(ALMS1):c.4244G>C (p.Gly1415Ala)	rs6546837	0.39736
NM_001378454.1(ALMS1):c.9782-70G>A	rs3738848	0.39439
NM_001378454.1(ALMS1):c.4179A>G (p.Gln1393=)	rs6546836	0.38173
NM_001378454.1(ALMS1):c.6854G>C (p.Arg2285Pro)	rs6546839	0.38002
NM_001378454.1(ALMS1):c.9540-259T>C	rs6711033	0.33751
NM_001378454.1(ALMS1):c.9907+160A>G	rs10178678	0.31362
NM_001378454.1(ALMS1):c.9561C>T (p.Thr3187=)	rs11884776	0.30410
NM_001378454.1(ALMS1):c.324+21G>A	rs11126399	0.27679
NM_001378454.1(ALMS1):c.*267T>A	rs62149804	0.14287
NM_001378454.1(ALMS1):c.6212T>C (p.Ile2071Thr)	rs10496192	0.13807
NM_001378454.1(ALMS1):c.7724G>A (p.Ser2575Asn)	rs3820700	0.13432
NM_001378454.1(ALMS1):c.8017G>C (p.Asp2673His)	rs2017116	0.13007
NM_001378454.1(ALMS1):c.12362+24C>T	rs114375547	0.07593
NM_001378454.1(ALMS1):c.12362+27A>G	rs17848872	0.07583
NM_001378454.1(ALMS1):c.12362+23A>T	rs116733486	0.07580
NM_001378454.1(ALMS1):c.3894A>G (p.Gln1298=)	rs112034360	0.06109
NM_001378454.1(ALMS1):c.9907+309G>A	rs34032338	0.05370
NM_001378454.1(ALMS1):c.9782-9C>T	rs10199680	0.03656
NM_001378454.1(ALMS1):c.11668+119A>G	rs11901974	0.02703
NM_001378454.1(ALMS1):c.12362+57C>T	rs116327057	0.02512
NM_001378454.1(ALMS1):c.9908-221A>G	rs138390176	0.02395
NM_001378454.1(ALMS1):c.11054G>A (p.Ser3685Asn)	rs11896293	0.02293
NM_001378454.1(ALMS1):c.5786G>A (p.Arg1929Gln)	rs17009061	0.02260
NM_001378454.1(ALMS1):c.4962G>T (p.Lys1654Asn)	rs28730853	0.02251
NM_001378454.1(ALMS1):c.10209T>A (p.Thr3403=)	rs34617744	0.02246
NM_001378454.1(ALMS1):c.9907+20C>T	rs74730457	0.02147
NM_001378454.1(ALMS1):c.11266G>A (p.Gly3756Ser)	rs34927702	0.02105
NM_001378454.1(ALMS1):c.11523G>A (p.Glu3841=)	rs35760114	0.02099
NM_001378454.1(ALMS1):c.7541-163A>G	rs76317790	0.01787
NM_001378454.1(ALMS1):c.4154C>G (p.Thr1385Arg)	rs115517108	0.01785
NM_001378454.1(ALMS1):c.10303A>G (p.Lys3435Glu)	rs34071195	0.01772
NM_001378454.1(ALMS1):c.5169A>G (p.Gln1723=)	rs75434052	0.01769
NM_001378454.1(ALMS1):c.10335C>T (p.Pro3445=)	rs78108069	0.01749
NM_001378454.1(ALMS1):c.671C>A (p.Pro224His)	rs11889925	0.01714
NM_001378454.1(ALMS1):c.2319G>A (p.Leu773=)	rs28730851	0.01669
NM_001378454.1(ALMS1):c.1871A>G (p.His624Arg)	rs41291187	0.01638
NM_001378454.1(ALMS1):c.5359A>G (p.Asn1787Asp)	rs45608038	0.01548
NM_001378454.1(ALMS1):c.9540-305C>G	rs115031007	0.01537
NM_001378454.1(ALMS1):c.1144A>G (p.Thr382Ala)	rs28730849	0.01527
NM_001378454.1(ALMS1):c.1899A>G (p.Gln633=)	rs116033693	0.01292
NM_001378454.1(ALMS1):c.*154G>C	rs77779454	0.01084
NM_001378454.1(ALMS1):c.6553C>T (p.Pro2185Ser)	rs77555300	0.01077
NM_001378454.1(ALMS1):c.5433G>C (p.Lys1811Asn)	rs78039319	0.01071
NM_001378454.1(ALMS1):c.5463G>A (p.Pro1821=)	rs62151609	0.00915
NM_001378454.1(ALMS1):c.2661A>G (p.Val887=)	rs76266696	0.00818
NM_001378454.1(ALMS1):c.8835C>G (p.Asn2945Lys)	rs35062203	0.00814
NM_001378454.1(ALMS1):c.10628C>G (p.Thr3543Ser)	rs45501594	0.00688
NM_001378454.1(ALMS1):c.3193T>C (p.Ser1065Pro)	rs28730852	0.00579
NM_001378454.1(ALMS1):c.10272G>C (p.Lys3424Asn)	rs34398445	0.00566
NM_001378454.1(ALMS1):c.6752A>G (p.Asp2251Gly)	rs28730855	0.00515
NM_001378454.1(ALMS1):c.11872+18G>A	rs139647347	0.00482
NM_001378454.1(ALMS1):c.2764C>T (p.Leu922=)	rs143885319	0.00467
NM_001378454.1(ALMS1):c.8742A>G (p.Val2914=)	rs142611294	0.00466
NM_001378454.1(ALMS1):c.6464A>G (p.Asp2155Gly)	rs58093963	0.00429
NM_001378454.1(ALMS1):c.7268A>G (p.Asn2423Ser)	rs75145370	0.00429
NM_001378454.1(ALMS1):c.11821G>A (p.Gly3941Ser)	rs61741524	0.00422
NM_001378454.1(ALMS1):c.4605A>G (p.Gln1535=)	rs144720929	0.00412
NM_001378454.1(ALMS1):c.6007A>G (p.Ile2003Val)	rs7587103	0.00394
NM_001378454.1(ALMS1):c.1182T>C (p.Tyr394=)	rs139512700	0.00361
NM_001378454.1(ALMS1):c.10751A>T (p.Gln3584Leu)	rs144486524	0.00310
NM_001378454.1(ALMS1):c.10464A>G (p.Val3488=)	rs28730858	0.00297
NM_001378454.1(ALMS1):c.9886A>G (p.Thr3296Ala)	rs58806616	0.00296
NM_001378454.1(ALMS1):c.4988C>T (p.Thr1663Ile)	rs188807564	0.00267
NM_001378454.1(ALMS1):c.9914A>G (p.Asn3305Ser)	rs142022233	0.00158
NM_001378454.1(ALMS1):c.11745C>T (p.Ser3915=)	rs147831309	0.00121
NM_001378454.1(ALMS1):c.2354A>G (p.Glu785Gly)	rs17848880	0.00077
NM_001378454.1(ALMS1):c.8919G>A (p.Ala2973=)	rs116854981	0.00076
NM_001378454.1(ALMS1):c.5245A>G (p.Thr1749Ala)	rs546111188	0.00001
NM_001378454.1(ALMS1):c.10384+173TA[8]	rs10684777
NM_001378454.1(ALMS1):c.10385-239C>A	rs6725385
NM_001378454.1(ALMS1):c.11117C>G (p.Ser3706Cys)	rs533965968
NM_001378454.1(ALMS1):c.1174C>T (p.Arg392Cys)	rs3813227
NM_001378454.1(ALMS1):c.12362+162dup	rs59142434
NM_001378454.1(ALMS1):c.1433-12_1433-10dup	rs1064795386
NM_001378454.1(ALMS1):c.1571CTC[1] (p.Pro525del)	rs34628045
NM_001378454.1(ALMS1):c.2416G>C (p.Val806Leu)	rs138921247
NM_001378454.1(ALMS1):c.2535C>T (p.Asp845=)	rs77517267
NM_001378454.1(ALMS1):c.36GGA[10] (p.Glu26_Glu28del)	rs55889738
NM_001378454.1(ALMS1):c.36GGA[11] (p.Glu27_Glu28del)	rs55889738
NM_001378454.1(ALMS1):c.36GGA[12] (p.Glu28del)	rs55889738
NM_001378454.1(ALMS1):c.36GGA[15] (p.Glu27_Glu28dup)	rs55889738
NM_001378454.1(ALMS1):c.36GGA[9] (p.Glu25_Glu28del)	rs55889738
NM_001378454.1(ALMS1):c.36_74= (p.Leu12_Glu25=)	rs55889738
NM_001378454.1(ALMS1):c.6302C>T (p.Ser2101Leu)	rs28730854
NM_001378454.1(ALMS1):c.7675-144C>G	rs2056750
NM_001378454.1(ALMS1):c.9540-234A>T	rs114800454
NM_015120.4(ALMS1):c.-39CTC[6]	rs746980000

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