ClinVar Miner

List of variants in gene MBTPS2 studied for BRESEK syndrome

Included ClinVar conditions (1):
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Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_015884.4(MBTPS2):c.1520C>T (p.Ala507Val) rs1486619088 0.00001
NM_015884.4(MBTPS2):c.529A>C (p.Ile177Leu) rs766760741 0.00001
NM_015884.4(MBTPS2):c.119A>C (p.Asn40Thr) rs777980245
NM_015884.4(MBTPS2):c.1286G>A (p.Arg429His) rs122468178
NM_015884.4(MBTPS2):c.1424T>C (p.Phe475Ser) rs122468179
NM_015884.4(MBTPS2):c.261G>A (p.Met87Ile) rs122468177
NM_015884.4(MBTPS2):c.516A>C (p.Glu172Asp) rs2092914741
NM_015884.4(MBTPS2):c.527G>A (p.Gly176Glu)
NM_015884.4(MBTPS2):c.671-9T>G rs587777305
NM_015884.4(MBTPS2):c.677G>T (p.Trp226Leu) rs122468180
NM_015884.4(MBTPS2):c.680A>T (p.His227Leu) rs122468176

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