List of variants reported as pathogenic for Crisponi syndrome by GeneReviews

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Total variants: 10

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HGVS	dbSNP
NM_004750.5(CRLF1):c.1121T>G (p.Leu374Arg)	rs104894668
NM_004750.5(CRLF1):c.303del (p.Asn102fs)	rs137853931
NM_004750.5(CRLF1):c.31_53del (p.Gln11fs)	rs137853929
NM_004750.5(CRLF1):c.397+1G>A	rs137853932
NM_004750.5(CRLF1):c.413C>T (p.Pro138Leu)	rs137853930
NM_004750.5(CRLF1):c.538C>T (p.Gln180Ter)	rs137853926
NM_004750.5(CRLF1):c.843_844TG[1] (p.Val282fs)	rs137853928
NM_004750.5(CRLF1):c.852G>T (p.Trp284Cys)	rs137853927
NM_004750.5(CRLF1):c.857_864del (p.Val286fs)	rs367543004
NM_004750.5(CRLF1):c.935G>A (p.Arg312His)	rs137853933

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