List of variants in gene MYSM1 reported as pathogenic for not provided

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 18

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HGVS	dbSNP	gnomAD frequency
NM_001085487.3(MYSM1):c.1432C>T (p.Arg478Ter)	rs748065332	0.00001
NC_000001.10:g.(?_59160781)_(59165724_?)del
NM_001085487.3(MYSM1):c.1204C>T (p.Gln402Ter)
NM_001085487.3(MYSM1):c.1410del (p.Arg470fs)
NM_001085487.3(MYSM1):c.1477C>T (p.Gln493Ter)
NM_001085487.3(MYSM1):c.1516C>T (p.Arg506Ter)
NM_001085487.3(MYSM1):c.152G>A (p.Trp51Ter)
NM_001085487.3(MYSM1):c.1709_1710insTTGAAGA (p.Glu570delinsAspTer)
NM_001085487.3(MYSM1):c.1885C>T (p.Gln629Ter)	rs1644486654
NM_001085487.3(MYSM1):c.2089C>T (p.Arg697Ter)
NM_001085487.3(MYSM1):c.275dup (p.Asp92fs)
NM_001085487.3(MYSM1):c.285dup (p.Tyr96fs)
NM_001085487.3(MYSM1):c.391C>T (p.Gln131Ter)
NM_001085487.3(MYSM1):c.415A>T (p.Arg139Ter)	rs2100658808
NM_001085487.3(MYSM1):c.420G>A (p.Trp140Ter)	rs2100658801
NM_001085487.3(MYSM1):c.664del (p.Glu222fs)
NM_001085487.3(MYSM1):c.775C>T (p.Gln259Ter)
NM_001085487.3(MYSM1):c.920_921del (p.Lys307fs)

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