ClinVar Miner

List of variants in gene SERPINH1 reported as benign for bone development disease

Included ClinVar conditions (618):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 14
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HGVS dbSNP gnomAD frequency
NM_001235.5(SERPINH1):c.234A>G (p.Leu78=) rs584961 0.91533
NM_001235.5(SERPINH1):c.598C>T (p.Leu200=) rs651581 0.40105
NM_001235.5(SERPINH1):c.*125A>G rs9175 0.39341
NM_001235.5(SERPINH1):c.693C>T (p.Thr231=) rs649257 0.36061
NM_001235.5(SERPINH1):c.1011G>A (p.Leu337=) rs585821 0.35953
NM_001235.5(SERPINH1):c.363C>G (p.Ser121=) rs650241 0.35781
NM_001235.5(SERPINH1):c.*525C>A rs6704 0.32671
NM_001235.5(SERPINH1):c.-19C>T rs78910605 0.03199
NM_001235.5(SERPINH1):c.955-6C>A rs7105575 0.03189
NM_001235.5(SERPINH1):c.-73G>A rs78251872 0.02923
NM_001235.5(SERPINH1):c.*490G>A rs12978 0.02893
NM_001235.5(SERPINH1):c.*580T>G rs145619367 0.00443
NM_001235.3(SERPINH1):c.-189G>A rs185295615 0.00081
NM_001235.5(SERPINH1):c.622+25TCC[6] rs35462148

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