ClinVar Miner

List of variants in gene SERPINF1 reported as pathogenic for bone disorder

Included ClinVar conditions (1350):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 13
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HGVS dbSNP gnomAD frequency
NM_002615.7(SERPINF1):c.-9+2dup rs398122519
NM_002615.7(SERPINF1):c.1132C>T (p.Gln378Ter) rs193302873
NM_002615.7(SERPINF1):c.1152_1170del (p.Phe384fs) rs869312908
NM_002615.7(SERPINF1):c.1217_1253del (p.Leu406fs) rs1597357740
NM_002615.7(SERPINF1):c.324_325dup (p.Tyr109fs) rs193302871
NM_002615.7(SERPINF1):c.651G>A (p.Trp217Ter) rs1597355244
NM_002615.7(SERPINF1):c.653del (p.Val218fs) rs398122520
NM_002615.7(SERPINF1):c.696C>G (p.Tyr232Ter) rs193302872
NM_002615.7(SERPINF1):c.77del (p.Pro26fs) rs1272920425
NM_002615.7(SERPINF1):c.77dup (p.Glu27fs) rs1272920425
NM_002615.7(SERPINF1):c.808G>T (p.Gly270Ter) rs369314029
NM_002615.7(SERPINF1):c.838_839del (p.Leu280fs) rs2151212834
NM_002615.7(SERPINF1):c.925_926del (p.Gln309fs) rs1908050941

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