List of variants in gene NME8 reported as benign for ciliopathy

Minimum submission review status:		Collection method:
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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 30

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HGVS	dbSNP	gnomAD frequency
NM_016616.5(NME8):c.622T>C (p.Cys208Arg)	rs10250905	0.77615
NM_016616.5(NME8):c.1544+22G>A	rs10261071	0.63994
NM_016616.5(NME8):c.1247+25A>G	rs2242027	0.47134
NM_016616.5(NME8):c.1140-10T>G	rs1530822	0.45910
NM_016616.5(NME8):c.177C>T (p.Asp59=)	rs2598044	0.28287
NM_016616.5(NME8):c.128G>A (p.Arg43Lys)	rs2722372	0.28270
NM_016616.5(NME8):c.1478T>C (p.Ile493Thr)	rs56128139	0.25213
NM_016616.5(NME8):c.1479A>T (p.Ile493=)	rs41276027	0.25198
NM_016616.5(NME8):c.1603T>C (p.Leu535=)	rs3213975	0.22683
NM_016616.5(NME8):c.840A>G (p.Arg280=)	rs62001868	0.13654
NM_016616.5(NME8):c.219G>A (p.Val73=)	rs3213976	0.08754
NM_016616.5(NME8):c.1013T>C (p.Ile338Thr)	rs62001870	0.03629
NM_016616.4(NME8):c.271-27C>T	rs117149381	0.01739
NM_016616.5(NME8):c.994+19A>G	rs73340816	0.00665
NM_016616.5(NME8):c.271-14C>T	rs75531720	0.00526
NM_016616.5(NME8):c.528+11T>C	rs117681493	0.00463
NM_016616.5(NME8):c.739G>A (p.Glu247Lys)	rs139516225	0.00383
NM_016616.5(NME8):c.1405A>C (p.Ile469Leu)	rs147791304	0.00253
NM_016616.5(NME8):c.1545-11G>A	rs180830403	0.00234
NM_016616.5(NME8):c.126C>T (p.Cys42=)	rs138311368	0.00201
NM_016616.5(NME8):c.-3T>C	rs184571218	0.00133
NM_016616.5(NME8):c.1077A>G (p.Gln359=)	rs142516478	0.00120
NM_016616.5(NME8):c.1317C>T (p.Thr439=)	rs144273423	0.00084
NM_016616.5(NME8):c.271-3T>C	rs191137504	0.00078
NM_016616.5(NME8):c.747C>T (p.Asn249=)	rs371745920	0.00006
NM_016616.5(NME8):c.1007G>A (p.Arg336His)	rs62001869
NM_016616.5(NME8):c.1140-8del
NM_016616.5(NME8):c.1478_1479delinsCT (p.Ile493Thr)	rs386712272
NM_016616.5(NME8):c.455-5dup
NM_016616.5(NME8):c.91+15del

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