ClinVar Miner

List of variants reported as pathogenic for Schwartz-Jampel syndrome by OMIM

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 13
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HGVS dbSNP gnomAD frequency
NM_001127671.2(LIFR):c.2074C>T (p.Arg692Ter) rs199775294 0.00002
NM_001127671.2(LIFR):c.1789C>T (p.Arg597Ter) rs121912501 0.00001
NM_001127671.2(LIFR):c.2170C>G (p.Pro724Ala) rs863225047 0.00001
HSPG2, EX60/61 FUSION
NM_001013693.3(LDLRAD2):c.643+518_*1484del
NM_001127671.2(LIFR):c.171_174del (p.Asn58fs) rs1561179853
NM_001127671.2(LIFR):c.2013dup (p.Met672fs) rs1430793861
NM_001127671.2(LIFR):c.653dup (p.Glu219fs) rs886042160
NM_005529.7(HSPG2):c.4595G>A (p.Cys1532Tyr) rs137853248
NM_005529.7(HSPG2):c.7294+4A>G rs1572220282
NM_005529.7(HSPG2):c.8464+4A>G rs1572204991
NM_005529.7(HSPG2):c.8464G>A (p.Ala2822Thr) rs748523693
NM_005529.7(HSPG2):c.8759-3_8764del

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