ClinVar Miner

List of variants in gene MBTPS2 studied for bone disorder

Included ClinVar conditions (1416):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_015884.4(MBTPS2):c.1237C>T (p.His413Tyr) rs200298161 0.00050
NM_015884.4(MBTPS2):c.408G>A (p.Ser136=) rs148895141 0.00045
NM_015884.4(MBTPS2):c.459C>T (p.Pro153=) rs371946947 0.00009
NM_015884.4(MBTPS2):c.671-10C>G rs751755276 0.00005
NM_015884.4(MBTPS2):c.1376A>G (p.Asn459Ser) rs1555986267
NM_015884.4(MBTPS2):c.1418A>T (p.Asn473Ile)
NM_015884.4(MBTPS2):c.1515G>C (p.Leu505Phe) rs1555986287
NM_015884.4(MBTPS2):c.175C>T (p.Arg59Cys) rs2092904689
NM_015884.4(MBTPS2):c.527G>A (p.Gly176Glu) rs2519561020

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