ClinVar Miner

List of variants reported as likely pathogenic by Department of Rehabilitation Medicine, Incheon St. Mary’s Hospital,College of Medicine, The Catholic University of Korea

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Total variants: 9
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HGVS dbSNP
NM_000257.4(MYH7):c.1495_1497GAG[1] (p.Glu500del) rs1555338254
NM_000540.2(RYR1):c.9716T>A (p.Met3239Lys) rs371027185
NM_001083961.2(WDR62):c.1684C>G (p.His562Asp) rs1379578836
NM_001083961.2(WDR62):c.883-4_890del rs1568334868
NM_001100.3(ACTA1):c.739G>C (p.Gly247Arg) rs1057521117
NM_001130987.2(DYSF):c.5420G>A (p.Arg1807Gln) rs148860301
NM_001130987.2(DYSF):c.875C>G (p.Pro292Arg) rs1559053603
NM_014363.6(SACS):c.12973C>T (p.Arg4325Ter) rs762947018
NM_022489.4(INF2):c.311G>A (p.Cys104Tyr) rs387907035

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