ClinVar Miner

List of variants studied for Keipert syndrome by Genome-Nilou Lab

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_001448.3(GPC4):c.-20C>T rs2073288 0.41801
NM_001448.3(GPC4):c.1173G>T (p.Glu391Asp) rs1129980 0.38255
NM_001448.3(GPC4):c.1325C>T (p.Ala442Val) rs1048369 0.38189

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