ClinVar Miner

List of variants in gene DYSF reported as likely pathogenic by CeGaT Praxis fuer Humangenetik Tuebingen

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Gene type:
ClinVar version:
Total variants: 5
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HGVS dbSNP
NM_001130987.2(DYSF):c.404C>T (p.Pro135Leu) rs773837400
NM_001130987.2(DYSF):c.5139del (p.Phe1713fs) rs1057519132
NM_001130987.2(DYSF):c.6116G>A (p.Arg2039Gln) rs115407852
NM_003494.3(DYSF):c.3113G>A rs150877497
NM_003494.4(DYSF):c.5018del (p.Lys1673fs) rs1064797253

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