ClinVar Miner

List of variants studied for Costello syndrome by Blueprint Genetics

Included ClinVar conditions (4):

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_001276345.2(TNNT2):c.862C>T (p.Arg288Cys)	rs121964857	0.00044
NM_005343.4(HRAS):c.173C>T (p.Thr58Ile)	rs121917758
NM_005343.4(HRAS):c.34G>A (p.Gly12Ser)	rs104894229
NM_005343.4(HRAS):c.64C>A (p.Gln22Lys)	rs121917757

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