List of variants reported as pathogenic for lung disorder by Genetic Services Laboratory, University of Chicago

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Total variants: 9

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HGVS	dbSNP	gnomAD frequency
NM_000195.5(HPS1):c.1472_1487dup (p.His497fs)	rs281865163
NM_000195.5(HPS1):c.233_242del (p.Asn78fs)	rs773323079
NM_004069.6(AP2S1):c.43C>T (p.Arg15Cys)	rs397514498
NM_015922.3(NSDHL):c.1038_1041dup (p.Gly348fs)	rs797045835
NM_015922.3(NSDHL):c.757C>T (p.Gln253Ter)	rs141571609
NM_015922.3(NSDHL):c.904del (p.Tyr302fs)	rs587784225
NM_015922.3(NSDHL):c.906C>A (p.Tyr302Ter)	rs587784226
NM_198253.3(TERT):c.2146G>A (p.Ala716Thr)	rs387907249
NM_198253.3(TERT):c.579_580delinsTT (p.Arg194Ter)	rs1554043041

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