ClinVar Miner

List of variants reported as pathogenic for Heterotaxy, visceral, 10, autosomal, with male infertility by OMIM

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_145054.5(CFAP52):c.811G>A (p.Gly271Arg)	rs140921334	0.00002
NC_000017.10:g.9481617_9489649del
NM_145054.5(CFAP52):c.1304del (p.Gly435fs)	rs1360832162

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