List of variants reported as likely pathogenic by Care4Rare-SOLVE, CHEO

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Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_001377.3(DYNC2H1):c.6381dup (p.Ser2128fs)
NM_001377.3(DYNC2H1):c.9440+4A>G
NM_004046.6(ATP5F1A):c.620G>A (p.Arg207His)	rs1555695342
NM_006218.4(PIK3CA):c.2702G>T (p.Cys901Phe)
NM_006218.4(PIK3CA):c.3061T>C (p.Tyr1021His)	rs2108429509

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