List of variants reported as pathogenic by The Genetics Institute, Rambam Health Care Campus

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

Total variants: 11

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HGVS	dbSNP	gnomAD frequency
NM_006031.6(PCNT):c.3465-1G>A	rs755084205	0.00002
NM_000693.4(ALDH1A3):c.211G>A (p.Val71Met)	rs386834230	0.00001
NM_004564.3(GATB):c.408T>G (p.Phe136Leu)	rs376766195	0.00001
NM_004564.3(GATB):c.580_581del (p.Ser194fs)	rs565910322	0.00001
NM_000574.5(CD55):c.43del (p.Leu15fs)	rs1114167430
NM_001013838.3(CARMIL2):c.1590C>A (p.Asn530Lys)	rs1567629968
NM_018292.5(QRSL1):c.1279_1280delinsTT (p.Ala427Leu)	rs1562173313
NM_018292.5(QRSL1):c.398G>T (p.Gly133Val)	rs1562168768
NM_018292.5(QRSL1):c.555C>A (p.Tyr185Ter)	rs763443331
NM_018292.5(QRSL1):c.587_596delinsACAAAAATCA (p.Thr196_Pro199delinsAsnLysAsnHis)	rs1562169661
NM_176818.3(GATC):c.233T>G (p.Met78Arg)	rs1370579526

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