List of variants in gene TTC7A reported by CeGaT Center for Human Genetics Tuebingen

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 28

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HGVS	dbSNP	gnomAD frequency
NM_020458.4(TTC7A):c.873G>C (p.Leu291=)	rs113997845	0.00851
NM_020458.4(TTC7A):c.2170C>A (p.Gln724Lys)	rs140166160	0.00442
NM_020458.4(TTC7A):c.1095G>T (p.Val365=)	rs113844968	0.00279
NM_020458.4(TTC7A):c.2460C>T (p.Gly820=)	rs58422168	0.00272
NM_020458.4(TTC7A):c.2014T>C (p.Ser672Pro)	rs149602485	0.00217
NM_020458.4(TTC7A):c.1817A>G (p.Lys606Arg)	rs139010200	0.00216
NM_020458.4(TTC7A):c.2211G>A (p.Ala737=)	rs142959785	0.00177
NM_020458.4(TTC7A):c.1348G>A (p.Val450Met)	rs114276698	0.00136
NM_020458.4(TTC7A):c.1129C>G (p.Gln377Glu)	rs117304542	0.00117
NM_020458.4(TTC7A):c.2085C>G (p.Pro695=)	rs139460494	0.00095
NM_020458.4(TTC7A):c.347C>T (p.Ser116Leu)	rs115234247	0.00084
NM_020458.4(TTC7A):c.2496C>T (p.Ala832=)	rs553994940	0.00013
NM_020458.4(TTC7A):c.1641+3G>C	rs370452371	0.00011
NM_020458.4(TTC7A):c.1518G>A (p.Leu506=)	rs759226270	0.00004
NM_020458.4(TTC7A):c.208G>A (p.Ala70Thr)	rs367596523	0.00004
NM_020458.4(TTC7A):c.497C>T (p.Ser166Leu)	rs752931401	0.00002
NM_020458.4(TTC7A):c.668C>T (p.Ser223Leu)	rs267599393	0.00002
NM_020458.4(TTC7A):c.849G>A (p.Ala283=)	rs763190482	0.00002
NM_020458.4(TTC7A):c.2517C>T (p.Ala839=)	rs751895973	0.00001
NM_020458.4(TTC7A):c.396C>T (p.Tyr132=)	rs780299149	0.00001
NM_020458.4(TTC7A):c.1026C>T (p.Ile342=)	rs151317740
NM_020458.4(TTC7A):c.1297G>T (p.Ala433Ser)
NM_020458.4(TTC7A):c.2051G>A (p.Arg684Gln)
NM_020458.4(TTC7A):c.2354T>C (p.Leu785Pro)	rs1573068097
NM_020458.4(TTC7A):c.2577A>C (p.Ter859Cys)	rs1685001234
NM_020458.4(TTC7A):c.412C>T (p.Arg138Ter)	rs773754673
NM_020458.4(TTC7A):c.437G>T (p.Arg146Leu)	rs61746139
NM_020458.4(TTC7A):c.899A>G (p.Tyr300Cys)	rs146719089

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