ClinVar Miner

List of variants in gene DMD reported as uncertain significance by CeGaT Praxis fuer Humangenetik Tuebingen

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Gene type:
ClinVar version:
Total variants: 16
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HGVS dbSNP
NM_004006.2(DMD):c.10604G>T (p.Gly3535Val) rs1555998259
NM_004006.2(DMD):c.1252A>T (p.Thr418Ser) rs201341211
NM_004006.2(DMD):c.3326A>T (p.Asn1109Ile) rs200596739
NM_004006.2(DMD):c.3850G>A (p.Glu1284Lys) rs1557359192
NM_004006.2(DMD):c.3986C>T (p.Thr1329Ile) rs770827878
NM_004006.2(DMD):c.5288G>T (p.Arg1763Leu) rs398123982
NM_004006.2(DMD):c.530+7A>T rs72470523
NM_004006.2(DMD):c.5489G>T (p.Arg1830Ile) rs369055628
NM_004006.2(DMD):c.5601A>C (p.Gln1867His) rs1057519179
NM_004006.2(DMD):c.7187C>T (p.Thr2396Ile) rs1057519106
NM_004006.2(DMD):c.733A>G (p.Ile245Val) rs140510985
NM_004006.2(DMD):c.76A>G (p.Asn26Asp) rs1057521321
NM_004006.2(DMD):c.7967C>A (p.Thr2656Asn) rs1569186515
NM_004006.2(DMD):c.8226A>G (p.Gln2742=) rs746514008
NM_004006.2(DMD):c.8509G>A (p.Asp2837Asn) rs965718917
NM_004006.2(DMD):c.902A>G (p.Tyr301Cys) rs769658853

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