ClinVar Miner

List of variants in gene ALMS1 reported by Integrated Genetics/Laboratory Corporation of America

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Gene type:
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Total variants: 53
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HGVS dbSNP
NM_015120.4(ALMS1):c.10275G>C (p.Lys3425Asn) rs34398445
NM_015120.4(ALMS1):c.10357A>G (p.Asn3453Asp) rs573748379
NM_015120.4(ALMS1):c.10631C>G (p.Thr3544Ser) rs45501594
NM_015120.4(ALMS1):c.10754A>T (p.Gln3585Leu) rs144486524
NM_015120.4(ALMS1):c.10895G>A (p.Arg3632His) rs142558799
NM_015120.4(ALMS1):c.11319G>T (p.Glu3773Asp) rs1019748558
NM_015120.4(ALMS1):c.11526G>A (p.Glu3842=) rs35760114
NM_015120.4(ALMS1):c.11751G>A (p.Glu3917=) rs373364340
NM_015120.4(ALMS1):c.11801G>A (p.Arg3934His) rs45576434
NM_015120.4(ALMS1):c.11824G>A (p.Gly3942Ser) rs61741524
NM_015120.4(ALMS1):c.1185T>C (p.Tyr395=) rs139512700
NM_015120.4(ALMS1):c.12079A>G (p.Arg4027Gly) rs754439156
NM_015120.4(ALMS1):c.12288G>T (p.Pro4096=) rs776912137
NM_015120.4(ALMS1):c.1270G>A (p.Val424Ile) rs45630557
NM_015120.4(ALMS1):c.1454G>A (p.Gly485Asp) rs374663067
NM_015120.4(ALMS1):c.1577_1579dup (p.Pro526_Leu527insPro) rs34628045
NM_015120.4(ALMS1):c.1874A>G (p.His625Arg) rs41291187
NM_015120.4(ALMS1):c.210C>T (p.Asp70=) rs752874408
NM_015120.4(ALMS1):c.2139C>T (p.Leu713=) rs747504060
NM_015120.4(ALMS1):c.2416A>G (p.Thr806Ala) rs772260271
NM_015120.4(ALMS1):c.2539G>A (p.Gly847Arg) rs201154998
NM_015120.4(ALMS1):c.2661A>G (p.Lys887=) rs80133984
NM_015120.4(ALMS1):c.2664A>G (p.Val888=) rs76266696
NM_015120.4(ALMS1):c.2767C>T (p.Leu923=) rs143885319
NM_015120.4(ALMS1):c.3575del (p.Phe1192fs) rs1558648759
NM_015120.4(ALMS1):c.36_38GGA[10] (p.Glu26_Glu29del) rs55889738
NM_015120.4(ALMS1):c.36_38GGA[11] (p.Glu27_Glu29del) rs55889738
NM_015120.4(ALMS1):c.36_38GGA[16] (p.Glu28_Glu29dup) rs55889738
NM_015120.4(ALMS1):c.3735G>A (p.Lys1245=) rs140670994
NM_015120.4(ALMS1):c.3897A>G (p.Gln1299=) rs112034360
NM_015120.4(ALMS1):c.39_77= (p.Glu13_Glu26=) rs55889738
NM_015120.4(ALMS1):c.4608A>G (p.Gln1536=) rs144720929
NM_015120.4(ALMS1):c.4768C>A (p.His1590Asn) rs771703863
NM_015120.4(ALMS1):c.48G>A (p.Glu16=) rs1558624512
NM_015120.4(ALMS1):c.4991C>T (p.Thr1664Ile) rs188807564
NM_015120.4(ALMS1):c.5578A>G (p.Ile1860Val) rs1558650343
NM_015120.4(ALMS1):c.5921C>A (p.Pro1974Gln) rs199615641
NM_015120.4(ALMS1):c.6010A>G (p.Ile2004Val) rs7587103
NM_015120.4(ALMS1):c.6302A>T (p.Lys2101Ile) rs373286582
NM_015120.4(ALMS1):c.6305C>T (p.Ser2102Leu) rs28730854
NM_015120.4(ALMS1):c.6382C>T (p.Pro2128Ser)
NM_015120.4(ALMS1):c.6540C>T (p.Thr2180=) rs371511963
NM_015120.4(ALMS1):c.6556C>T (p.Pro2186Ser) rs77555300
NM_015120.4(ALMS1):c.6618A>T (p.Leu2206=) rs375011895
NM_015120.4(ALMS1):c.674C>A (p.Pro225His) rs11889925
NM_015120.4(ALMS1):c.762T>A (p.Pro254=) rs201478438
NM_015120.4(ALMS1):c.825T>C (p.Ser275=) rs145009331
NM_015120.4(ALMS1):c.8277A>G (p.Gln2759=) rs181226362
NM_015120.4(ALMS1):c.864C>T (p.Asp288=) rs377281121
NM_015120.4(ALMS1):c.8745A>G (p.Val2915=) rs142611294
NM_015120.4(ALMS1):c.9078A>G (p.Pro3026=) rs1278648561
NM_015120.4(ALMS1):c.9655A>T (p.Ile3219Phe) rs771768835
NM_015120.4(ALMS1):c.9917A>G (p.Asn3306Ser) rs142022233

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