List of variants in gene TOPORS reported by Eurofins NTD LLC (GA)

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: 29

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HGVS	dbSNP	gnomAD frequency
NM_005802.5(TOPORS):c.2991T>C (p.Asp997=)	rs12348918	0.19195
NM_005802.5(TOPORS):c.2319T>C (p.Ser773=)	rs10971019	0.16858
NM_005802.5(TOPORS):c.58C>T (p.Pro20Ser)	rs112527210	0.01946
NM_005802.5(TOPORS):c.2245A>G (p.Asn749Asp)	rs17857515	0.01479
NM_005802.5(TOPORS):c.2160C>T (p.Tyr720=)	rs74328058	0.00561
NM_005802.5(TOPORS):c.2643C>G (p.His881Gln)	rs41302222	0.00253
NM_005802.5(TOPORS):c.1560A>G (p.Gln520=)	rs61756347	0.00220
NM_005802.5(TOPORS):c.814A>G (p.Ile272Val)	rs115436019	0.00171
NM_005802.5(TOPORS):c.1730C>A (p.Ser577Tyr)	rs79708790	0.00137
NM_005802.5(TOPORS):c.2525C>A (p.Thr842Asn)	rs139859703	0.00106
NM_005802.5(TOPORS):c.2547A>G (p.Ser849=)	rs150650712	0.00088
NM_005802.5(TOPORS):c.2115T>C (p.Thr705=)	rs372292364	0.00029
NM_005802.5(TOPORS):c.2044T>C (p.Ser682Pro)	rs74759910	0.00020
NM_005802.5(TOPORS):c.2019T>A (p.Arg673=)	rs760719392	0.00017
NM_005802.5(TOPORS):c.2862A>C (p.Thr954=)	rs143560726	0.00017
NM_005802.5(TOPORS):c.2314C>T (p.Leu772=)	rs371017482	0.00009
NM_005802.5(TOPORS):c.2344A>G (p.Thr782Ala)	rs746320974	0.00009
NM_005802.5(TOPORS):c.1795A>C (p.Ser599Arg)	rs886044315	0.00001
NM_005802.5(TOPORS):c.3040A>G (p.Asn1014Asp)	rs185044466	0.00001
NM_005802.5(TOPORS):c.67C>T (p.Pro23Ser)	rs780800052	0.00001
NM_005802.5(TOPORS):c.1764C>T (p.Asn588=)	rs370068052
NM_005802.5(TOPORS):c.1953C>T (p.Ser651=)	rs727504178
NM_005802.5(TOPORS):c.198+6_198+9del	rs794727280
NM_005802.5(TOPORS):c.2018G>T (p.Arg673Leu)	rs147497536
NM_005802.5(TOPORS):c.2018_2019delinsTA (p.Arg673Leu)	rs797044708
NM_005802.5(TOPORS):c.2161A>G (p.Arg721Gly)	rs794727506
NM_005802.5(TOPORS):c.601A>C (p.Arg201=)	rs886043308
NM_005802.5(TOPORS):c.671A>C (p.Asp224Ala)	rs147071021
NM_005802.5(TOPORS):c.74C>G (p.Ser25Trp)	rs61758066

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