ClinVar Miner

List of variants in gene ALMS1 reported as likely benign by Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine

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Gene type:
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Total variants: 42
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HGVS dbSNP
NM_001378454.1(ALMS1):c.10572A>G (p.Glu3524=)
NM_001378454.1(ALMS1):c.11560G>A (p.Val3854Met)
NM_001378454.1(ALMS1):c.11696A>G (p.Lys3899Arg) rs1347288383
NM_001378454.1(ALMS1):c.384A>G (p.Thr128=)
NM_001378454.1(ALMS1):c.4709C>T (p.Ser1570Phe)
NM_001378454.1(ALMS1):c.4988C>T (p.Thr1663Ile) rs188807564
NM_001378454.1(ALMS1):c.5602C>A (p.Leu1868Ile) rs1553404102
NM_001378454.1(ALMS1):c.7441G>A (p.Ala2481Thr) rs760068474
NM_001378454.1(ALMS1):c.8122A>G (p.Met2708Val) rs371904071
NM_001378454.1(ALMS1):c.9324A>G (p.Ala3108=)
NM_001378454.1(ALMS1):c.9741A>G (p.Ser3247=) rs370844317
NM_015120.4(ALMS1):c.10241A>G (p.Glu3414Gly) rs184779459
NM_015120.4(ALMS1):c.10754A>T (p.Gln3585Leu) rs144486524
NM_015120.4(ALMS1):c.10861A>C (p.Arg3621=) rs201598829
NM_015120.4(ALMS1):c.10872G>C (p.Leu3624=) rs775336312
NM_015120.4(ALMS1):c.11356A>G (p.Ile3786Val) rs201819880
NM_015120.4(ALMS1):c.11466G>A (p.Glu3822=) rs750087396
NM_015120.4(ALMS1):c.11644C>T (p.His3882Tyr) rs142278066
NM_015120.4(ALMS1):c.1164T>C (p.His388=) rs191091347
NM_015120.4(ALMS1):c.11711G>A (p.Arg3904Gln) rs201673771
NM_015120.4(ALMS1):c.11748C>T (p.Ser3916=) rs147831309
NM_015120.4(ALMS1):c.11956A>G (p.Ile3986Val) rs201728850
NM_015120.4(ALMS1):c.12237A>G (p.Ala4079=) rs374508659
NM_015120.4(ALMS1):c.1270G>A (p.Val424Ile) rs45630557
NM_015120.4(ALMS1):c.1841G>A (p.Gly614Asp) rs148040591
NM_015120.4(ALMS1):c.2039A>G (p.Tyr680Cys) rs199573929
NM_015120.4(ALMS1):c.2041C>G (p.Arg681Gly) rs115444326
NM_015120.4(ALMS1):c.2106A>C (p.Pro702=) rs750362630
NM_015120.4(ALMS1):c.2668A>G (p.Ile890Val) rs377282102
NM_015120.4(ALMS1):c.3692G>A (p.Gly1231Glu) rs372619046
NM_015120.4(ALMS1):c.4347A>G (p.Leu1449=) rs200459890
NM_015120.4(ALMS1):c.474T>C (p.Cys158=) rs367648094
NM_015120.4(ALMS1):c.5499A>G (p.Arg1833=) rs1572936704
NM_015120.4(ALMS1):c.6010A>G (p.Ile2004Val) rs7587103
NM_015120.4(ALMS1):c.6540C>T (p.Thr2180=) rs371511963
NM_015120.4(ALMS1):c.8163C>T (p.His2721=) rs992844961
NM_015120.4(ALMS1):c.8448A>G (p.Ser2816=) rs137932254
NM_015120.4(ALMS1):c.8658A>G (p.Arg2886=) rs377249623
NM_015120.4(ALMS1):c.9711G>A (p.Lys3237=) rs574095166
NM_015120.4(ALMS1):c.9864A>G (p.Pro3288=) rs114687298
NM_015120.4(ALMS1):c.9889A>G (p.Thr3297Ala) rs58806616
NM_015120.4(ALMS1):c.9900C>T (p.Ser3300=) rs1217540541

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