ClinVar Miner

List of variants reported as likely benign for Retinitis pigmentosa by Natera, Inc.

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ClinVar version:
Total variants: 26
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HGVS dbSNP gnomAD frequency
NM_001142800.2(EYS):c.7006G>A (p.Val2336Ile) rs74848648 0.00397
NM_001142800.2(EYS):c.-337T>A rs145321084 0.00201
NM_001142800.2(EYS):c.4985A>T (p.Asp1662Val) rs147641443 0.00192
NM_201548.5(CERKL):c.820+9G>A rs189638090 0.00163
NM_001142800.2(EYS):c.2562C>T (p.Asp854=) rs188011013 0.00081
NM_001142800.2(EYS):c.1872G>A (p.Ser624=) rs148411571 0.00075
NM_001142800.2(EYS):c.3586T>C (p.Cys1196Arg) rs374409854 0.00036
NM_001142800.2(EYS):c.5577C>T (p.Pro1859=) rs747911999 0.00029
NM_001142800.2(EYS):c.9237A>G (p.Leu3079=) rs139944387 0.00026
NM_001142800.2(EYS):c.7239T>C (p.Ile2413=) rs776743787 0.00025
NM_001142800.2(EYS):c.8916T>C (p.Tyr2972=) rs867410198 0.00021
NM_201548.5(CERKL):c.900T>C (p.His300=) rs183252158 0.00020
NM_001142800.2(EYS):c.2199C>T (p.Asp733=) rs769923713 0.00012
NM_001201543.2(FAM161A):c.1959G>T (p.Glu653Asp) rs201052209 0.00010
NM_001142800.2(EYS):c.8181C>T (p.Leu2727=) rs369121423 0.00009
NM_001142800.2(EYS):c.1107C>T (p.Ser369=) rs755023434 0.00008
NM_001142800.2(EYS):c.6891G>A (p.Lys2297=) rs1297093544 0.00004
NM_001201543.2(FAM161A):c.1554A>G (p.Val518=) rs752639878 0.00004
NM_001201543.2(FAM161A):c.924G>A (p.Arg308=) rs1017182965 0.00004
NM_201548.5(CERKL):c.1159+8G>A rs201778792 0.00004
NM_001142800.2(EYS):c.6726-6G>A rs575406480 0.00003
NM_001142800.2(EYS):c.5101C>T (p.Leu1701=) rs776193099 0.00002
NM_001142800.2(EYS):c.5841C>T (p.His1947=) rs772523953 0.00002
NM_001142800.2(EYS):c.6025A>G (p.Lys2009Glu) rs559078881 0.00001
NM_001142800.2(EYS):c.7369C>T (p.Leu2457=) rs551500915
NM_001201543.2(FAM161A):c.177G>A (p.Gly59=) rs752470299

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