ClinVar Miner

List of variants in gene EMD reported as pathogenic by Invitae

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Gene type:
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Total variants: 14
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HGVS dbSNP
NC_000023.10:g.(?_153607825)_(153609577_?)del
NM_000117.2(EMD):c.123C>A (p.Tyr41Ter) rs1060502612
NM_000117.2(EMD):c.12C>G (p.Tyr4Ter) rs782011714
NM_000117.2(EMD):c.135dup (p.Arg46fs) rs1557182301
NM_000117.2(EMD):c.153dup (p.Ser52fs) rs876661345
NM_000117.2(EMD):c.1A>G (p.Met1Val) rs267606782
NM_000117.2(EMD):c.215_216AT[3] (p.Met73fs) rs1557182364
NM_000117.2(EMD):c.430G>T (p.Glu144Ter) rs1557182560
NM_000117.2(EMD):c.484C>T (p.Gln162Ter) rs1557182611
NM_000117.2(EMD):c.581_582del (p.Ser194fs) rs1557182654
NM_000117.2(EMD):c.600G>A (p.Trp200Ter) rs1557182661
NM_000117.2(EMD):c.607del (p.Arg203fs) rs1569552106
NM_000117.2(EMD):c.60del (p.Asn20fs) rs886041854
NM_000117.2(EMD):c.621del (p.Pro208fs) rs1557182670

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