ClinVar Miner

List of variants in gene PKD1L1 studied for Situs inversus

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Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_138295.5(PKD1L1):c.5072G>C (p.Cys1691Ser)	rs886037834	0.00001
NM_138295.5(PKD1L1):c.7825C>T (p.Gln2609Ter)	rs1368668141	0.00001
NM_138295.5(PKD1L1):c.6473+2_6473+3del	rs528302390

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