ClinVar Miner

List of variants reported as likely pathogenic for Schwartz-Jampel syndrome

Included ClinVar conditions (6):
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Minimum conflict level:
ClinVar version:
Total variants: 27
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HGVS dbSNP gnomAD frequency
NM_005529.7(HSPG2):c.12353C>T (p.Thr4118Met) rs200150908 0.00006
NM_005529.7(HSPG2):c.4955+3A>T rs769130391 0.00003
NM_001127671.2(LIFR):c.2074C>T (p.Arg692Ter) rs199775294 0.00002
NM_005529.7(HSPG2):c.5273G>A (p.Arg1758Gln) rs2229483 0.00002
NM_001127671.2(LIFR):c.2444C>G (p.Thr815Arg) rs1744257909 0.00001
NM_001127671.2(LIFR):c.478_479del (p.Arg160fs) rs1242667371 0.00001
NM_001127671.2(LIFR):c.1105dup (p.Tyr369fs)
NM_001127671.2(LIFR):c.1136_1137del (p.Tyr379fs)
NM_001127671.2(LIFR):c.1578del (p.Lys526fs) rs1554020702
NM_001127671.2(LIFR):c.210del (p.Ser71fs) rs2112564371
NM_001127671.2(LIFR):c.2168-1G>A rs2112393633
NM_001127671.2(LIFR):c.23del (p.Cys7_Leu8insTer) rs773896661
NM_001127671.2(LIFR):c.254del (p.Asn85fs) rs886041545
NM_001127671.2(LIFR):c.912_915del (p.Ile304fs) rs1561159768
NM_005529.7(HSPG2):c.1030T>C (p.Cys344Arg)
NM_005529.7(HSPG2):c.11208-7G>A rs1336552092
NM_005529.7(HSPG2):c.1125C>G (p.Cys375Trp) rs543805444
NM_005529.7(HSPG2):c.11730C>A (p.Cys3910Ter) rs1215934207
NM_005529.7(HSPG2):c.1219del (p.Gln407fs)
NM_005529.7(HSPG2):c.12900-2A>G
NM_005529.7(HSPG2):c.13163_13164del (p.Pro4388fs)
NM_005529.7(HSPG2):c.1654+5G>A rs1572356343
NM_005529.7(HSPG2):c.4740+5G>A rs886039909
NM_005529.7(HSPG2):c.4955+1G>C rs139944523
NM_005529.7(HSPG2):c.5296G>A (p.Ala1766Thr)
NM_005529.7(HSPG2):c.9958T>C (p.Cys3320Arg) rs2098038156
NM_005529.7(HSPG2):c.9970G>A (p.Gly3324Arg) rs1294413650

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