List of variants in gene PCNT reported as benign by Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center

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: 33

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HGVS	dbSNP	gnomAD frequency
NM_006031.6(PCNT):c.2111G>A (p.Gly704Glu)	rs2839223	0.88373
NM_006031.6(PCNT):c.2556T>C (p.Ala852=)	rs8131546	0.88316
NM_006031.6(PCNT):c.3113T>C (p.Val1038Ala)	rs6518289	0.87478
NM_006031.6(PCNT):c.2928C>G (p.Leu976=)	rs2839228	0.87375
NM_006031.6(PCNT):c.2610-5C>T	rs2839226	0.68609
NM_006031.6(PCNT):c.8375A>G (p.Gln2792Arg)	rs2073376	0.67500
NM_006031.6(PCNT):c.7914-16C>T	rs2839257	0.67468
NM_006031.6(PCNT):c.720+17T>C	rs9982233	0.67221
NM_006031.6(PCNT):c.7977G>C (p.Gln2659His)	rs2070426	0.48521
NM_006031.6(PCNT):c.721-7G>A	rs2839217	0.32249
NM_006031.6(PCNT):c.6821C>T (p.Pro2274Leu)	rs2070425	0.24579
NM_006031.6(PCNT):c.6384A>G (p.Thr2128=)	rs60444527	0.18604
NM_006031.6(PCNT):c.9735A>C (p.Arg3245Ser)	rs2073380	0.17969
NM_006031.6(PCNT):c.7874G>A (p.Arg2625Gln)	rs8131693	0.05976
NM_006031.6(PCNT):c.711T>G (p.His237Gln)	rs34500739	0.05250
NM_006031.6(PCNT):c.5858G>A (p.Arg1953His)	rs34268261	0.05068
NM_006031.6(PCNT):c.8258G>A (p.Arg2753His)	rs743346	0.04982
NM_006031.6(PCNT):c.54+6C>T	rs80017051	0.04471
NM_006031.6(PCNT):c.7130C>T (p.Pro2377Leu)	rs61735814	0.04295
NM_006031.6(PCNT):c.520A>G (p.Ile174Val)	rs61735822	0.03881
NM_006031.6(PCNT):c.3580G>A (p.Ala1194Thr)	rs35044802	0.03488
NM_006031.6(PCNT):c.6571T>C (p.Ser2191Pro)	rs34151633	0.03401
NM_006031.6(PCNT):c.3339T>C (p.Ser1113=)	rs61735805	0.03082
NM_006031.6(PCNT):c.5879G>A (p.Arg1960Gln)	rs34813667	0.02167
NM_006031.6(PCNT):c.9014C>T (p.Thr3005Met)	rs60078675	0.02025
NM_006031.6(PCNT):c.4910C>T (p.Pro1637Leu)	rs34849154	0.00771
NM_006031.6(PCNT):c.7159G>A (p.Val2387Met)	rs75024419	0.00771
NM_006031.6(PCNT):c.7914-4G>A	rs76287849	0.00764
NM_006031.6(PCNT):c.7404G>C (p.Gln2468His)	rs77075366	0.00759
NM_006031.6(PCNT):c.8752-5A>C	rs149444205	0.00573
NM_006031.6(PCNT):c.5815C>T (p.Arg1939Trp)	rs575313866	0.00060
NM_006031.6(PCNT):c.1542C>A (p.Ser514=)	rs2249057
NM_006031.6(PCNT):c.6922-5_6922-4insTCTGA	rs59957960

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