ClinVar Miner

List of variants reported as pathogenic for Crisponi syndrome

Included ClinVar conditions (1):
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Total variants: 23
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HGVS dbSNP
CRLF1, 2-BP DEL/1-BP INS, NT708
NM_001031710.3(KLHL7):c.1022del (p.Leu341fs) rs879255557
NM_001031710.3(KLHL7):c.1115G>A (p.Arg372Gln) rs879255558
NM_001031710.3(KLHL7):c.1258C>T (p.Arg420Cys) rs780705654
NM_001031710.3(KLHL7):c.1261T>A (p.Cys421Ser) rs879255556
NM_004750.4(CRLF1):c.[242G>A;1121T>G]
NM_004750.5(CRLF1):c.1102A>T (p.Lys368Ter) rs137853144
NM_004750.5(CRLF1):c.1121T>G (p.Leu374Arg) rs104894668
NM_004750.5(CRLF1):c.226T>G (p.Trp76Gly) rs137853143
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.527+5G>A rs748847434
NM_004750.5(CRLF1):c.538C>T (p.Gln180Ter) rs137853926
NM_004750.5(CRLF1):c.676dup (p.Thr226fs)
NM_004750.5(CRLF1):c.713dup (p.Pro239fs) rs768727082
NM_004750.5(CRLF1):c.829C>T (p.Arg277Ter) rs137853145
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
NM_004750.5(CRLF1):c.985dup (p.Glu329fs)

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