ClinVar Miner

List of variants in gene ALMS1 reported as likely benign for not provided

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Total variants: 39
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HGVS dbSNP
NC_000002.12:g.73424408_73424411del
NM_015120.4(ALMS1):c.10213+22C>T
NM_015120.4(ALMS1):c.10214-214G>A
NM_015120.4(ALMS1):c.10221C>T (p.Ser3407=)
NM_015120.4(ALMS1):c.10275G>C (p.Lys3425Asn) rs34398445
NM_015120.4(ALMS1):c.1035A>G (p.Ser345=)
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.11551-3T>C rs555547573
NM_015120.4(ALMS1):c.11775T>C (p.Asp3925=)
NM_015120.4(ALMS1):c.11875+18G>A rs139647347
NM_015120.4(ALMS1):c.12114+33G>A
NM_015120.4(ALMS1):c.12115-100C>T
NM_015120.4(ALMS1):c.12225C>T (p.Thr4075=) rs199638718
NM_015120.4(ALMS1):c.12362+181G>A
NM_015120.4(ALMS1):c.12363-294A>C
NM_015120.4(ALMS1):c.12365+18A>T rs535484933
NM_015120.4(ALMS1):c.12462+205G>C
NM_015120.4(ALMS1):c.1270G>A (p.Val424Ile) rs45630557
NM_015120.4(ALMS1):c.1776C>T (p.Asp592=)
NM_015120.4(ALMS1):c.1977G>A (p.Lys659=)
NM_015120.4(ALMS1):c.2097G>A (p.Val699=) rs200535382
NM_015120.4(ALMS1):c.2419G>C (p.Val807Leu) rs138921247
NM_015120.4(ALMS1):c.3095C>G (p.Thr1032Ser) rs199922877
NM_015120.4(ALMS1):c.3270A>G (p.Thr1090=)
NM_015120.4(ALMS1):c.3423C>T (p.Thr1141=)
NM_015120.4(ALMS1):c.36_38GGA[17] (p.Glu27_Glu29dup) rs55889738
NM_015120.4(ALMS1):c.39_77= (p.Glu13_Glu26=) rs55889738
NM_015120.4(ALMS1):c.4188G>A (p.Ser1396=)
NM_015120.4(ALMS1):c.6010A>G (p.Ile2004Val) rs7587103
NM_015120.4(ALMS1):c.6467A>G (p.Asp2156Gly) rs58093963
NM_015120.4(ALMS1):c.6755A>G (p.Asp2252Gly) rs28730855
NM_015120.4(ALMS1):c.7271A>G (p.Asn2424Ser) rs75145370
NM_015120.4(ALMS1):c.7541-180G>C
NM_015120.4(ALMS1):c.7541-33T>C
NM_015120.4(ALMS1):c.7675-64A>T
NM_015120.4(ALMS1):c.7675-66A>T
NM_015120.4(ALMS1):c.94_96GCG[3] (p.Ala35_Ala36del)
NM_015120.4(ALMS1):c.9907+129T>G

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