ClinVar Miner

List of variants studied for Pyle disease by Genome-Nilou Lab

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_003014.4(SFRP4):c.786C>T (p.Arg262=) rs1132553 0.54626
NM_003014.4(SFRP4):c.567G>A (p.Thr189=) rs1132552 0.43818
NM_003014.4(SFRP4):c.958C>A (p.Pro320Thr) rs1802073 0.43676
NM_003014.4(SFRP4):c.1019G>A (p.Arg340Lys) rs1802074 0.24674

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