List of variants reported as likely pathogenic for Nephronophthisis 15 by Labcorp Genetics (formerly Invitae), Labcorp

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Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 32

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HGVS	dbSNP	gnomAD frequency
NM_014956.5(CEP164):c.688-2A>C	rs370034077	0.00009
NM_014956.5(CEP164):c.3748+2T>C	rs200223232	0.00002
NM_014956.5(CEP164):c.1233+1G>A	rs762768517	0.00001
NM_014956.5(CEP164):c.1724+1G>A	rs1489883516	0.00001
NM_014956.5(CEP164):c.2066+1G>A	rs1279037770	0.00001
NM_014956.5(CEP164):c.2493+1G>A	rs778819060	0.00001
NM_014956.5(CEP164):c.2760+1G>T	rs1269878493	0.00001
NM_014956.5(CEP164):c.277C>T (p.Arg93Trp)	rs387907310	0.00001
NM_014956.5(CEP164):c.3609+1G>T	rs1313027554	0.00001
NM_014956.5(CEP164):c.687+1G>A	rs193201363	0.00001
NC_000011.9:g.(?_117253375)_(117257939_?)del
NM_014956.5(CEP164):c.1234-2A>T	rs2541381382
NM_014956.5(CEP164):c.1317+2T>G
NM_014956.5(CEP164):c.1318-13_1319del	rs2541521563
NM_014956.5(CEP164):c.1409+2T>C	rs1222305871
NM_014956.5(CEP164):c.1934+1G>A	rs951827564
NM_014956.5(CEP164):c.1935-1G>C
NM_014956.5(CEP164):c.194+2T>C	rs2540461335
NM_014956.5(CEP164):c.2283+1G>C	rs1166097710
NM_014956.5(CEP164):c.2283+2T>C	rs1459158279
NM_014956.5(CEP164):c.2284-1G>A	rs1391874809
NM_014956.5(CEP164):c.2361+1G>A	rs2044759367
NM_014956.5(CEP164):c.2362-1G>T	rs1380436983
NM_014956.5(CEP164):c.2616+1G>A	rs2136378484
NM_014956.5(CEP164):c.2914-1G>C	rs1218292786
NM_014956.5(CEP164):c.3216+1del	rs2542174972
NM_014956.5(CEP164):c.3749-2A>G	rs1482717760
NM_014956.5(CEP164):c.4096+1G>C	rs780888941
NM_014956.5(CEP164):c.552+1G>C	rs2041038603
NM_014956.5(CEP164):c.553-1G>A	rs2041099865
NM_014956.5(CEP164):c.765+1G>A	rs2041251614
NM_014956.5(CEP164):c.766-2A>G	rs2135912935

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