List of variants studied for Cerebral cavernous malformation 1

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Total variants: 13

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HGVS	dbSNP	gnomAD frequency
NM_007217.4(PDCD10):c.131dup (p.Arg45fs)	rs2108438340
NM_194454.3(KRIT1):c.1362_1363del (p.Gln455fs)	rs1180476377
NM_194454.3(KRIT1):c.1363C>T (p.Gln455Ter)	rs267607203
NM_194454.3(KRIT1):c.1561C>T (p.Gln521Ter)	rs2131435199
NM_194454.3(KRIT1):c.1867dup (p.Arg623fs)	rs2131309179
NM_194454.3(KRIT1):c.1879C>T (p.Gln627Ter)	rs2131309013
NM_194454.3(KRIT1):c.1940del (p.Lys647fs)	rs2131308132
NM_194454.3(KRIT1):c.410A>G (p.Asp137Gly)	rs137853139
NM_194454.3(KRIT1):c.601C>G (p.Gln201Glu)	rs137853140
NM_194454.3(KRIT1):c.845+2T>C	rs1563302930
NM_194454.3(KRIT1):c.857G>A (p.Trp286Ter)
NM_194454.3(KRIT1):c.953_956del (p.Asp318fs)
NM_194454.3(KRIT1):c.987C>A (p.Cys329Ter)	rs267607204

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