ClinVar Miner

List of variants in gene ALMS1 reported as uncertain significance by Illumina Clinical Services Laboratory,Illumina

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Gene type:
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Total variants: 39
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HGVS dbSNP
NM_015120.4(ALMS1):c.*105A>G rs553541249
NM_015120.4(ALMS1):c.*111A>G rs200498913
NM_015120.4(ALMS1):c.*209A>G rs573978557
NM_015120.4(ALMS1):c.-107G>A rs886056292
NM_015120.4(ALMS1):c.-39delC 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.10183A>G (p.Lys3395Glu) rs886056316
NM_015120.4(ALMS1):c.106_108dup (p.Ala36_Asn37insAla) rs746896173
NM_015120.4(ALMS1):c.10829A>G (p.Gln3610Arg) rs886056317
NM_015120.4(ALMS1):c.11608A>T (p.Ser3870Cys) rs886056318
NM_015120.4(ALMS1):c.11890G>T (p.Val3964Phe) rs886056319
NM_015120.4(ALMS1):c.12001C>T (p.Pro4001Ser) rs767061718
NM_015120.4(ALMS1):c.1267G>A (p.Asp423Asn) rs886056297
NM_015120.4(ALMS1):c.1329A>G (p.Glu443=) rs886056298
NM_015120.4(ALMS1):c.1343C>G (p.Pro448Arg) rs886056299
NM_015120.4(ALMS1):c.1707A>C (p.Pro569=) rs886056300
NM_015120.4(ALMS1):c.2119A>G (p.Thr707Ala) rs886056301
NM_015120.4(ALMS1):c.2727C>T (p.Tyr909=) rs573325092
NM_015120.4(ALMS1):c.3409A>G (p.Thr1137Ala) rs886056302
NM_015120.4(ALMS1):c.36_38GGA[16] (p.Glu28_Glu29dup) rs55889738
NM_015120.4(ALMS1):c.36_38GGA[17] (p.Glu27_Glu29dup) rs55889738
NM_015120.4(ALMS1):c.36_38GGA[18] (p.Glu26_Glu29dup) rs55889738
NM_015120.4(ALMS1):c.5562G>A (p.Gln1854=) rs886056303
NM_015120.4(ALMS1):c.5934G>C (p.Lys1978Asn) rs886056305
NM_015120.4(ALMS1):c.6017A>G (p.Asp2006Gly) rs886056306
NM_015120.4(ALMS1):c.6073A>G (p.Lys2025Glu) rs886056307
NM_015120.4(ALMS1):c.6142T>A (p.Ser2048Thr) rs886056308
NM_015120.4(ALMS1):c.6461A>G (p.Gln2154Arg) rs534635095
NM_015120.4(ALMS1):c.6850C>T (p.Leu2284Phe) rs886056309
NM_015120.4(ALMS1):c.7265A>G (p.Asp2422Gly) rs886056310
NM_015120.4(ALMS1):c.7328T>A (p.Val2443Asp) rs886056311
NM_015120.4(ALMS1):c.8442A>G (p.Glu2814=) rs886038617
NM_015120.4(ALMS1):c.8482A>C (p.Arg2828=) rs886056312
NM_015120.4(ALMS1):c.8819A>G (p.Asp2940Gly) rs886056313
NM_015120.4(ALMS1):c.9081T>C (p.Asn3027=) rs886056314
NM_015120.4(ALMS1):c.9227C>T (p.Ser3076Phe) rs886056315
NM_015120.4(ALMS1):c.9541C>A (p.Arg3181=) rs563393715

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