List of variants reported as pathogenic by Columbia University Laboratory of Personalized Genomic Medicine, Columbia University Medical Center

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		ClinVar version:

Total variants: 7

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HGVS	dbSNP	gnomAD frequency
NM_005609.4(PYGM):c.148C>T (p.Arg50Ter)	rs116987552	0.00181
NM_006017.3(PROM1):c.139del (p.His47fs)	rs747512450
NM_006017.3(PROM1):c.1877_1878del (p.Ile626fs)	rs1300041533
NM_016035.4(COQ4):c.[23_33delTCCTCCGTCGG];[331G>T;356C>T]
NM_020975.4(RET):c.[2410G>A;2832C>G]
TMEM106B-BRAF fusion
t(2;3)(p12;p14.3)

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