ClinVar Miner

List of variants reported as likely pathogenic for congenital anomaly of cardiovascular system by George Lab Vanderbilt University

Included ClinVar conditions (334):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_001743.6(CALM2):c.293A>G (p.Asn98Ser) rs398124647
NM_001743.6(CALM2):c.293A>T (p.Asn98Ile) rs398124647
NM_001743.6(CALM2):c.396T>G (p.Asp132Glu) rs398124648
NM_001743.6(CALM2):c.400G>C (p.Asp134His) rs398124650
NM_001743.6(CALM2):c.407A>C (p.Gln136Pro) rs398124649

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