List of variants reported as likely pathogenic by Wainwright Lab, University Of Queensland

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Total variants: 7

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HGVS	dbSNP	gnomAD frequency
NM_018255.4(ELP2):c.1331T>C (p.Leu444Ser)	rs139040517	0.00021
NM_018255.4(ELP2):c.1385G>A (p.Arg462Gln)	rs371310428	0.00002
NM_019040.5(ELP4):c.272A>G (p.Tyr91Cys)	rs758883150	0.00001
NM_019040.5(ELP4):c.886C>A (p.Leu296Ile)	rs755762601	0.00001
NM_018255.4(ELP2):c.1214C>T (p.Thr405Ile)	rs2090515872
NM_018255.4(ELP2):c.2460_2461del (p.Arg820fs)	rs1331690035
NM_018255.4(ELP2):c.293dup (p.Leu98fs)	rs529659464

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