ClinVar Miner

List of variants reported as uncertain significance for Alstrom syndrome by Illumina Clinical Services Laboratory,Illumina

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Total variants: 41
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HGVS dbSNP
NM_001378454.1(ALMS1):c.*105A>G rs553541249
NM_001378454.1(ALMS1):c.*111A>G rs200498913
NM_001378454.1(ALMS1):c.*209A>G rs573978557
NM_001378454.1(ALMS1):c.10180A>G (p.Lys3394Glu) rs886056316
NM_001378454.1(ALMS1):c.10826A>G (p.Gln3609Arg) rs886056317
NM_001378454.1(ALMS1):c.11605A>T (p.Ser3869Cys) rs886056318
NM_001378454.1(ALMS1):c.11887G>T (p.Val3963Phe) rs886056319
NM_001378454.1(ALMS1):c.11998C>T (p.Pro4000Ser) rs767061718
NM_001378454.1(ALMS1):c.1264G>A (p.Asp422Asn) rs886056297
NM_001378454.1(ALMS1):c.1326A>G (p.Glu442=) rs886056298
NM_001378454.1(ALMS1):c.1340C>G (p.Pro447Arg) rs886056299
NM_001378454.1(ALMS1):c.1704A>C (p.Pro568=) rs886056300
NM_001378454.1(ALMS1):c.2116A>G (p.Thr706Ala) rs886056301
NM_001378454.1(ALMS1):c.2724C>T (p.Tyr908=) rs573325092
NM_001378454.1(ALMS1):c.3406A>G (p.Thr1136Ala) rs886056302
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[17] (p.Glu25_Glu28dup) rs55889738
NM_001378454.1(ALMS1):c.5559G>A (p.Gln1853=) rs886056303
NM_001378454.1(ALMS1):c.5931G>C (p.Lys1977Asn) rs886056305
NM_001378454.1(ALMS1):c.6014A>G (p.Asp2005Gly) rs886056306
NM_001378454.1(ALMS1):c.6070A>G (p.Lys2024Glu) rs886056307
NM_001378454.1(ALMS1):c.6139T>A (p.Ser2047Thr) rs886056308
NM_001378454.1(ALMS1):c.6458A>G (p.Gln2153Arg) rs534635095
NM_001378454.1(ALMS1):c.6847C>T (p.Leu2283Phe) rs886056309
NM_001378454.1(ALMS1):c.7262A>G (p.Asp2421Gly) rs886056310
NM_001378454.1(ALMS1):c.7325T>A (p.Val2442Asp) rs886056311
NM_001378454.1(ALMS1):c.8439A>G (p.Glu2813=) rs886038617
NM_001378454.1(ALMS1):c.8479A>C (p.Arg2827=) rs886056312
NM_001378454.1(ALMS1):c.8816A>G (p.Asp2939Gly) rs886056313
NM_001378454.1(ALMS1):c.9078T>C (p.Asn3026=) rs886056314
NM_001378454.1(ALMS1):c.9224C>T (p.Ser3075Phe) rs886056315
NM_001378454.1(ALMS1):c.9538C>A (p.Arg3180=) rs563393715
NM_015120.4(ALMS1):c.-107G>A rs886056292
NM_015120.4(ALMS1):c.-39del rs764473588
NM_015120.4(ALMS1):c.-48C>T rs543687863
NM_015120.4(ALMS1):c.-53C>T rs868088238
NM_015120.4(ALMS1):c.-64C>T rs886056293
NM_015120.4(ALMS1):c.-78A>G
NM_015120.4(ALMS1):c.-91A>G
NM_015120.4(ALMS1):c.106_108dup (p.Ala36_Asn37insAla) rs746896173

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