List of variants in gene CHRNG reported as uncertain significance for Autosomal recessive multiple pterygium syndrome

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

Total variants: 39

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HGVS	dbSNP	gnomAD frequency
NM_005199.5(CHRNG):c.951C>A (p.Ile317=)	rs75369104	0.00988
NM_005199.5(CHRNG):c.195+14C>T	rs200640510	0.00299
NM_005199.5(CHRNG):c.125G>A (p.Arg42Gln)	rs148468628	0.00262
NM_005199.5(CHRNG):c.471C>T (p.Phe157=)	rs143272752	0.00120
NM_005199.5(CHRNG):c.775G>A (p.Ala259Thr)	rs138125827	0.00078
NM_005199.5(CHRNG):c.928A>T (p.Thr310Ser)	rs145830034	0.00077
NM_005199.5(CHRNG):c.663G>A (p.Ala221=)	rs150556220	0.00068
NM_005199.5(CHRNG):c.82C>T (p.Arg28Cys)	rs140623763	0.00057
NM_005199.5(CHRNG):c.132G>A (p.Ala44=)	rs141402683	0.00050
NM_005199.5(CHRNG):c.507-12G>A	rs184423691	0.00036
NM_005199.5(CHRNG):c.367G>A (p.Glu123Lys)	rs199937736	0.00019
NM_005199.5(CHRNG):c.439C>T (p.Arg147Cys)	rs754928609	0.00019
NM_005199.5(CHRNG):c.426G>A (p.Pro142=)	rs375894671	0.00017
NM_005199.5(CHRNG):c.573G>A (p.Glu191=)	rs771417982	0.00012
NM_005199.5(CHRNG):c.543G>A (p.Gln181=)	rs753990044	0.00010
NM_005199.5(CHRNG):c.129C>T (p.Pro43=)	rs151276788	0.00008
NM_005199.5(CHRNG):c.737T>A (p.Ile246Asn)	rs139998228	0.00008
NM_005199.5(CHRNG):c.130G>A (p.Ala44Thr)	rs186589083	0.00007
NM_005199.5(CHRNG):c.806-13C>T	rs375760045	0.00006
NM_005199.5(CHRNG):c.994C>T (p.Arg332Trp)	rs567899708	0.00006
NM_005199.5(CHRNG):c.913A>G (p.Ile305Val)	rs142582718	0.00005
NM_005199.5(CHRNG):c.357C>T (p.Asp119=)	rs749995118	0.00004
NM_005199.5(CHRNG):c.239T>C (p.Met80Thr)	rs1222999452	0.00003
NM_005199.5(CHRNG):c.330G>A (p.Pro110=)	rs149931943	0.00003
NM_005199.5(CHRNG):c.460G>A (p.Val154Ile)	rs756232748	0.00003
NM_005199.5(CHRNG):c.1030C>T (p.Arg344Cys)	rs554907332	0.00002
NM_005199.5(CHRNG):c.167A>C (p.Lys56Thr)	rs376314818	0.00002
NM_005199.5(CHRNG):c.57G>C (p.Gly19=)	rs753421728	0.00002
NM_005199.5(CHRNG):c.137G>A (p.Arg46Gln)	rs755148348	0.00001
NM_005199.5(CHRNG):c.250G>A (p.Asp84Asn)	rs771588131	0.00001
NM_005199.5(CHRNG):c.394G>A (p.Val132Met)	rs781249093	0.00001
NM_005199.5(CHRNG):c.5A>T (p.His2Leu)	rs775592546	0.00001
NM_005199.5(CHRNG):c.196-9C>T	rs182635953
NM_005199.5(CHRNG):c.234A>T (p.Ile78=)	rs1691992464
NM_005199.5(CHRNG):c.301_309dup (p.Arg101_Pro103dup)	rs863223313
NM_005199.5(CHRNG):c.350+4A>G
NM_005199.5(CHRNG):c.440G>T (p.Arg147Leu)	rs144323121
NM_005199.5(CHRNG):c.474C>T (p.Pro158=)	rs145907618
NM_005199.5(CHRNG):c.708C>T (p.Leu236=)	rs1308873617

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