ClinVar Miner

List of variants in gene EVC reported as uncertain significance by GeneDx

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Gene type:
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Total variants: 21
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HGVS dbSNP gnomAD frequency
NM_153717.3(EVC):c.1500G>A (p.Met500Ile) rs149898884 0.00163
NM_153717.3(EVC):c.2707A>G (p.Ile903Val) rs143678893 0.00093
NM_153717.3(EVC):c.2322G>C (p.Ala774=) rs150373930 0.00067
NM_153717.3(EVC):c.2350G>A (p.Ala784Thr) rs149537641 0.00024
NM_153717.3(EVC):c.2519C>T (p.Thr840Met) rs143464806 0.00024
NM_153717.3(EVC):c.1523A>G (p.Glu508Gly) rs370721640 0.00013
NM_153717.3(EVC):c.77C>T (p.Ala26Val) rs1035520087 0.00011
NM_153717.3(EVC):c.982C>T (p.Leu328Phe) rs199916502 0.00011
NM_153717.3(EVC):c.1744C>G (p.Leu582Val) rs367863826 0.00009
NM_153717.3(EVC):c.2392G>A (p.Gly798Arg) rs142738089 0.00009
NM_153717.3(EVC):c.625G>A (p.Val209Ile) rs202026284 0.00003
GRCh38/hg38 4p16.2(chr4:5720860-5741769)x3
NM_153717.3(EVC):c.114CGGCCT[4] (p.39GL[4]) rs1164121689
NM_153717.3(EVC):c.1720C>T (p.Arg574Cys)
NM_153717.3(EVC):c.1940G>A (p.Arg647Gln) rs35401386
NM_153717.3(EVC):c.2368G>A (p.Val790Met)
NM_153717.3(EVC):c.2426T>G (p.Leu809Arg)
NM_153717.3(EVC):c.2829_2830del (p.Asp945fs) rs1460851298
NM_153717.3(EVC):c.2895-16_2895-13del rs773917688
NM_153717.3(EVC):c.589G>T (p.Ala197Ser) rs115507440
NM_153717.3(EVC):c.82C>A (p.Leu28Met) rs1723001259

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