ClinVar Miner

List of variants reported as uncertain significance for holoprosencephaly 1 by Center for Reproductive Medicine, Peking University Third Hospital

Included ClinVar conditions (6):

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_005560.6(LAMA5):c.5680C>T (p.Arg1894Cys)	rs141989486	0.00074
NM_005560.6(LAMA5):c.5635G>A (p.Val1879Ile)	rs561540996	0.00002

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