ClinVar Miner

List of variants reported as benign for congenital contractures of the limbs and face, hypotonia, and developmental delay

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_052867.4(NALCN):c.3570T>C (p.Leu1190=) rs686141 0.74451
NM_052867.4(NALCN):c.800-35G>A rs570252 0.54204
NM_052867.4(NALCN):c.2118+9T>C rs661585 0.50096
NM_052867.4(NALCN):c.3714C>T (p.Thr1238=) rs17677552 0.28902
NM_052867.4(NALCN):c.2637-10T>G rs16958350 0.02553
NM_052867.4(NALCN):c.1593C>T (p.Val531=) rs3916906
NM_052867.4(NALCN):c.3346G>T (p.Gly1116Cys) rs2034130538
NM_052867.4(NALCN):c.3955-50CT[11] rs34229756

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