ClinVar Miner

List of variants studied for acromesomelic dysplasia by 3billion, Medical Genetics

Included ClinVar conditions (14):

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
		ClinVar version:

Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_003995.4(NPR2):c.2245C>T (p.Arg749Trp)	rs61758531	0.00001
NM_003995.4(NPR2):c.1111C>T (p.Arg371Ter)	rs1828094222
NM_003995.4(NPR2):c.1577C>A (p.Ser526Ter)	rs756858649
NM_003995.4(NPR2):c.2648T>G (p.Val883Gly)	rs2132095372

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