List of variants in gene combination CHRNG, TIGD1 reported as uncertain significance for Lethal multiple pterygium syndrome

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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_145702.4(TIGD1):c.*2040C>T	rs111802317	0.00258
NM_005199.5(CHRNG):c.1115C>T (p.Ser372Phe)	rs145433186	0.00160
NM_145702.4(TIGD1):c.*2184A>G	rs147814126	0.00065
NM_005199.5(CHRNG):c.1259C>T (p.Pro420Leu)	rs146674765	0.00038
NM_005199.5(CHRNG):c.1381G>A (p.Gly461Arg)	rs143800157	0.00032
NM_005199.5(CHRNG):c.1075G>A (p.Val359Ile)	rs16829208	0.00021
NM_005199.5(CHRNG):c.1118G>A (p.Arg373Gln)	rs144755776	0.00018
NM_005199.5(CHRNG):c.1378A>G (p.Asn460Asp)	rs138232636	0.00016
NM_145702.4(TIGD1):c.*2197C>T	rs975418556	0.00009
NM_005199.5(CHRNG):c.*131C>T	rs566877095	0.00008
NM_145702.4(TIGD1):c.*2190C>G	rs144523413	0.00008
NM_005199.5(CHRNG):c.*126C>T	rs369614677	0.00007
NM_145702.4(TIGD1):c.*2003C>G	rs914603576	0.00007
NM_005199.5(CHRNG):c.1145C>T (p.Ser382Leu)	rs774121021	0.00006
NM_005199.5(CHRNG):c.1230G>A (p.Ala410=)	rs144948513	0.00006
NM_005199.5(CHRNG):c.1423G>A (p.Val475Ile)	rs764228635	0.00005
NM_145702.4(TIGD1):c.*1798A>G	rs1033983635	0.00003
NM_145702.4(TIGD1):c.*2384G>A	rs1034629827	0.00003
NM_005199.5(CHRNG):c.1074C>T (p.His358=)	rs761581720	0.00002
NM_005199.5(CHRNG):c.1178T>C (p.Leu393Pro)	rs1360277075	0.00002
NM_005199.5(CHRNG):c.1528C>T (p.Arg510Cys)	rs762066089	0.00002
NM_005199.5(CHRNG):c.1180C>G (p.Pro394Ala)	rs771886490	0.00001
NM_145702.4(TIGD1):c.*2322A>C	rs1259742484	0.00001
NM_005199.5(CHRNG):c.*508T>C	rs886055787
NM_005199.5(CHRNG):c.1105G>A (p.Asp369Asn)	rs1406594207
NM_005199.5(CHRNG):c.1213C>T (p.Arg405Trp)	rs760473901
NM_005199.5(CHRNG):c.1227G>A (p.Val409=)	rs1692086043
NM_145702.4(TIGD1):c.*1799G>A	rs72991940
NM_145702.4(TIGD1):c.*2100G>C	rs1044726391
NM_145702.4(TIGD1):c.*2210A>G	rs944288485

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