ClinVar Miner

List of variants reported as benign for congenital anomaly of cardiovascular system by Cytogenetics- Mohapatra Lab, Banaras Hindu University

Included ClinVar conditions (334):
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Minimum conflict level:
ClinVar version:
Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_001368067.1(LDB3):c.504T>C (p.Asp168=) rs76615432 0.06909
NM_001200.4(BMP2):c.109T>G (p.Ser37Ala) rs2273073 0.02358
NM_001368067.1(LDB3):c.546T>C (p.Ser182=) rs71473272 0.00316
NM_001719.3(BMP7):c.962A>G (p.Asn321Ser) rs61733438 0.00277
NM_001719.3(BMP7):c.945G>A (p.Met315Ile) rs183792918 0.00011
NM_007078.3(LDB3):c.273G>A (p.Thr91=) rs45613039 0.00010
NM_001719.3(BMP7):c.847G>A (p.Ala283Thr) rs560540219 0.00004

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