ClinVar Miner

List of variants studied for Shwachman-Diamond syndrome 2 by Genome-Nilou Lab

Included ClinVar conditions (1):

Shwachman-Diamond syndrome 2

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_024580.6(EFL1):c.2358T>C (p.Gly786=)	rs905450	0.80593
NM_024580.6(EFL1):c.2990-36T>C	rs2457497	0.80253
NM_024580.6(EFL1):c.1434G>C (p.Glu478Asp)	rs2292189	0.72086
NM_024580.6(EFL1):c.731+18T>C	rs1972460	0.40119

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