ClinVar Miner

List of variants in gene ELN reported as uncertain significance by CeGaT Center for Human Genetics Tuebingen

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Total variants: 19
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HGVS dbSNP gnomAD frequency
NM_000501.4(ELN):c.326G>A (p.Gly109Asp) rs145519139 0.00040
NM_000501.4(ELN):c.1358-199G>A rs781963901 0.00034
NM_000501.4(ELN):c.1675G>A (p.Val559Ile) rs560081099 0.00015
NM_000501.4(ELN):c.460G>A (p.Val154Met) rs145669576 0.00010
NM_000501.4(ELN):c.145G>A (p.Gly49Arg) rs144757453 0.00005
NM_000501.4(ELN):c.476G>A (p.Arg159Gln) rs369045063 0.00003
NM_000501.4(ELN):c.1849G>A (p.Gly617Ser) rs781904032 0.00001
NM_000501.4(ELN):c.1873G>A (p.Ala625Thr) rs1200675959 0.00001
NM_000501.4(ELN):c.1879G>A (p.Ala627Thr) rs552662894 0.00001
NM_000501.4(ELN):c.280G>C (p.Gly94Arg) rs1554669275 0.00001
NM_000501.4(ELN):c.898A>T (p.Thr300Ser) rs766735416 0.00001
NM_000501.4(ELN):c.140G>C (p.Gly47Ala) rs1554665826
NM_000501.4(ELN):c.1488_1523del (p.Leu497_Gly508del) rs782284755
NM_000501.4(ELN):c.1747+39C>T
NM_000501.4(ELN):c.1793C>T (p.Ala598Val)
NM_000501.4(ELN):c.1869CGC[5] (p.Ala630dup) rs1239601146
NM_000501.4(ELN):c.358G>A (p.Gly120Ser)
NM_000501.4(ELN):c.661T>C (p.Tyr221His)
NM_000501.4(ELN):c.698G>C (p.Gly233Ala)

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