ClinVar Miner

List of variants in gene EVC, LOC129992144 studied for autosomal recessive disease

Included ClinVar conditions (1198):
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Gene type:
ClinVar version:
Total variants: 25
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HGVS dbSNP gnomAD frequency
NM_153717.3(EVC):c.-35C>A rs546318095 0.00314
NM_153717.3(EVC):c.-36G>A rs577263762 0.00288
NM_153717.3(EVC):c.8G>C (p.Arg3Pro) rs756852655 0.00195
NM_153717.3(EVC):c.-20C>A rs991444136 0.00012
NM_153717.3(EVC):c.27G>C (p.Lys9Asn) rs1474600088 0.00001
NM_153717.3(EVC):c.-16_20del (p.Met1_Ala7del) rs1445771901
NM_153717.3(EVC):c.-1_1delinsTT (p.Met1Leu)
NM_153717.3(EVC):c.13_14insCTCA (p.Gly5fs)
NM_153717.3(EVC):c.14G>T (p.Gly5Val)
NM_153717.3(EVC):c.16del (p.Ala6fs) rs2151766718
NM_153717.3(EVC):c.1A>C (p.Met1Leu)
NM_153717.3(EVC):c.1A>G (p.Met1Val)
NM_153717.3(EVC):c.21C>G (p.Ala7=)
NM_153717.3(EVC):c.24C>T (p.Cys8=)
NM_153717.3(EVC):c.24del (p.Ala7_Cys8insTer) rs1553857828
NM_153717.3(EVC):c.25A>T (p.Lys9Ter) rs1425513399
NM_153717.3(EVC):c.26_36del (p.Lys9fs)
NM_153717.3(EVC):c.26del (p.Lys9fs)
NM_153717.3(EVC):c.27G>A (p.Lys9=)
NM_153717.3(EVC):c.29_30insA (p.Ser10fs)
NM_153717.3(EVC):c.2T>A (p.Met1Lys) rs1553857801
NM_153717.3(EVC):c.2T>C (p.Met1Thr)
NM_153717.3(EVC):c.3_4insTATAAGAGACA (p.Ala2fs)
NM_153717.3(EVC):c.8_9insTGCTGCTGAGTGT (p.Gly4fs)
NM_153717.3(EVC):c.9C>A (p.Arg3=) rs1330946337

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