List of variants in gene RP1 reported as uncertain significance 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
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 16

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HGVS	dbSNP	gnomAD frequency
NM_006269.2(RP1):c.3826C>T (p.Pro1276Ser)	rs151316028	0.00153
NM_006269.2(RP1):c.4030T>C (p.Phe1344Leu)	rs146256526	0.00113
NM_006269.2(RP1):c.228C>T (p.Leu76=)	rs142600056	0.00073
NM_006269.2(RP1):c.1568A>G (p.Asn523Ser)	rs144309486	0.00052
NM_006269.2(RP1):c.6196G>A (p.Asp2066Asn)	rs149282954	0.00040
NM_006269.2(RP1):c.4299A>G (p.Ala1433=)	rs148918111	0.00013
NM_006269.2(RP1):c.3532G>T (p.Asp1178Tyr)	rs147384119	0.00007
NM_006269.2(RP1):c.3305A>G (p.Gln1102Arg)	rs398124219	0.00006
NM_006269.2(RP1):c.2716G>A (p.Ala906Thr)	rs201538234	0.00003
NM_006269.2(RP1):c.515T>G (p.Leu172Arg)	rs180729424	0.00003
NM_006269.2(RP1):c.205A>T (p.Asn69Tyr)	rs794727282	0.00002
NM_006269.2(RP1):c.2494G>T (p.Asp832Tyr)	rs371471873	0.00001
NM_006269.2(RP1):c.4633A>G (p.Lys1545Glu)	rs767994258	0.00001
NM_006269.2(RP1):c.820C>A (p.Gln274Lys)	rs776541829	0.00001
NM_006269.2(RP1):c.1989G>T (p.Lys663Asn)	rs372551375
NM_006269.2(RP1):c.4467C>T (p.Ala1489=)	rs794727639

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