ClinVar Miner

List of variants reported as benign for congenital heart defects, multiple types, 4 by Invitae

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_021005.4(NR2F2):c.537C>T (p.Ser179=) rs143951395 0.00055
NM_021005.4(NR2F2):c.834G>A (p.Ser278=) rs199886454 0.00021
NM_021005.4(NR2F2):c.970+18C>A rs373488143 0.00015
NM_021005.4(NR2F2):c.970+12_970+16dup rs563165104

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