ClinVar Miner

List of variants studied for Alstrom syndrome by Nilou-Genome Lab

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Total variants: 43
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HGVS dbSNP
NM_001378454.1(ALMS1):c.10832A>G (p.Gln3611Arg) rs45452795
NM_001378454.1(ALMS1):c.11641C>T (p.His3881Tyr) rs142278066
NM_001378454.1(ALMS1):c.11668+1G>A
NM_001378454.1(ALMS1):c.11700del (p.Lys3900fs) rs1553421626
NM_001378454.1(ALMS1):c.11714_11717del (p.Val3905fs) rs932538480
NM_001378454.1(ALMS1):c.1174C>T (p.Arg392Cys) rs3813227
NM_001378454.1(ALMS1):c.11873-12T>C rs1320374
NM_001378454.1(ALMS1):c.11953A>G (p.Ile3985Val) rs201728850
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.12198G>A (p.Arg4066=) rs199603690
NM_001378454.1(ALMS1):c.12425A>G (p.Tyr4142Cys) rs775032572
NM_001378454.1(ALMS1):c.1400C>T (p.Thr467Ile) rs201990757
NM_001378454.1(ALMS1):c.1420C>A (p.His474Asn) rs200454461
NM_001378454.1(ALMS1):c.1453A>G (p.Ile485Val) rs73945001
NM_001378454.1(ALMS1):c.2015T>G (p.Val672Gly) rs2037814
NM_001378454.1(ALMS1):c.2036A>G (p.Tyr679Cys) rs199573929
NM_001378454.1(ALMS1):c.2190C>T (p.Phe730=) rs7598901
NM_001378454.1(ALMS1):c.280C>T (p.Pro94Ser) rs775431837
NM_001378454.1(ALMS1):c.3011C>G (p.Ser1004Ter)
NM_001378454.1(ALMS1):c.36GGA[11] (p.Glu27_Glu28del) rs55889738
NM_001378454.1(ALMS1):c.3838G>A (p.Ala1280Thr) rs767729719
NM_001378454.1(ALMS1):c.4179A>G (p.Gln1393=) rs6546836
NM_001378454.1(ALMS1):c.4204A>G (p.Thr1402Ala) rs199649563
NM_001378454.1(ALMS1):c.4244G>C (p.Gly1415Ala) rs6546837
NM_001378454.1(ALMS1):c.4249C>T (p.Arg1417Trp) rs199615803
NM_001378454.1(ALMS1):c.4885C>T (p.Arg1629Trp) rs201874722
NM_001378454.1(ALMS1):c.5189A>G (p.Glu1730Gly) rs201390755
NM_001378454.1(ALMS1):c.5626A>G (p.Ile1876Val) rs6546838
NM_001378454.1(ALMS1):c.5724G>C (p.Gln1908His) rs779739318
NM_001378454.1(ALMS1):c.6076A>G (p.Lys2026Glu) rs191286546
NM_001378454.1(ALMS1):c.6212T>C (p.Ile2071Thr) rs10496192
NM_001378454.1(ALMS1):c.6336T>A (p.Ser2112Arg) rs6724782
NM_001378454.1(ALMS1):c.6854G>C (p.Arg2285Pro) rs6546839
NM_001378454.1(ALMS1):c.7276T>G (p.Cys2426Gly)
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.8411G>A (p.Arg2804His) rs201252809
NM_001378454.1(ALMS1):c.8445A>G (p.Ser2815=) rs137932254
NM_001378454.1(ALMS1):c.8481G>T (p.Arg2827Ser) rs2056486
NM_001378454.1(ALMS1):c.8570A>G (p.Asn2857Ser) rs10193972
NM_001378454.1(ALMS1):c.9145A>G (p.Ile3049Val) rs202228570
NM_001378454.1(ALMS1):c.9561C>T (p.Thr3187=) rs11884776

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