ClinVar Miner

List of variants studied for Crisponi syndrome by GeneReviews

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 12
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HGVS dbSNP
NM_004750.5(CRLF1):c.1121T>G (p.Leu374Arg) rs104894668
NM_004750.5(CRLF1):c.242G>A (p.Arg81His) rs104894670
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.66_68GCT[3] (p.Leu26del) rs34503316
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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