ClinVar Miner

List of variants studied for Schwartz-Jampel syndrome by Baylor Genetics

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_005529.7(HSPG2):c.2357A>G (p.Asn786Ser) rs143736974 0.00628
NM_005529.7(HSPG2):c.4916C>T (p.Thr1639Met) rs142433309 0.00177
NM_005529.7(HSPG2):c.916G>A (p.Gly306Arg) rs149899316 0.00004
NM_001127671.2(LIFR):c.2443A>G (p.Thr815Ala) rs767895692 0.00001
NM_001127671.2(LIFR):c.503C>G (p.Ser168Ter) rs779829941
NM_001127671.2(LIFR):c.737G>T (p.Trp246Leu) rs1745754747
NM_005529.7(HSPG2):c.6520G>A (p.Val2174Met) rs777069767
NM_005529.7(HSPG2):c.6545A>C (p.Gln2182Pro) rs1401615464
NM_005529.7(HSPG2):c.9958T>C (p.Cys3320Arg) rs2098038156

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