ClinVar Miner

List of variants reported as benign for Familial hemophagocytic lymphohistiocytosis 2

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Total variants: 32
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HGVS dbSNP gnomAD frequency
NM_001083116.3(PRF1):c.900C>T (p.His300=) rs885822 0.67032
NM_001083116.3(PRF1):c.*96G>A rs1889490 0.51193
NM_001083116.3(PRF1):c.822C>T (p.Ala274=) rs885821 0.16394
NM_001083116.3(PRF1):c.272C>T (p.Ala91Val) rs35947132 0.02791
NM_001083116.3(PRF1):c.11G>A (p.Arg4His) rs35418374 0.02616
NM_001083116.3(PRF1):c.462A>G (p.Ala154=) rs116554195 0.01461
NM_001083116.3(PRF1):c.726C>T (p.Cys242=) rs35329429 0.01263
NM_001083116.3(PRF1):c.435G>A (p.Val145=) rs115281140 0.01164
NM_001083116.3(PRF1):c.702G>A (p.Ser234=) rs138508223 0.00843
NM_001083116.3(PRF1):c.755A>G (p.Asn252Ser) rs28933375 0.00756
NM_001083116.3(PRF1):c.96G>A (p.Lys32=) rs2228018 0.00448
NM_001083116.3(PRF1):c.444C>T (p.Ala148=) rs61737403 0.00389
NM_001083116.3(PRF1):c.403G>A (p.Val135Met) rs12263572 0.00293
NM_001083116.3(PRF1):c.1560C>T (p.Arg520=) rs147087107 0.00175
NM_001083116.3(PRF1):c.873C>T (p.Ser291=) rs149008090 0.00139
NM_001083116.3(PRF1):c.528C>T (p.Cys176=) rs138588977 0.00113
NM_001083116.3(PRF1):c.615C>T (p.Asn205=) rs141130900 0.00088
NM_001083116.3(PRF1):c.1620A>G (p.Gln540=) rs149776121 0.00083
NM_001083116.3(PRF1):c.1428G>A (p.Gly476=) rs145695221 0.00061
NM_001083116.3(PRF1):c.1041C>T (p.His347=) rs150104693 0.00045
NM_001083116.3(PRF1):c.286C>A (p.Arg96=) rs144024245 0.00045
NM_001083116.3(PRF1):c.82C>T (p.Arg28Cys) rs141660796 0.00043
NM_001083116.3(PRF1):c.807C>T (p.His269=) rs147453010 0.00039
NM_001083116.3(PRF1):c.630C>T (p.Pro210=) rs144004164 0.00014
NM_001083116.3(PRF1):c.363G>A (p.Ala121=) rs146358730 0.00010
NM_001083116.3(PRF1):c.632C>T (p.Ala211Val) rs368524364 0.00006
NM_001083116.3(PRF1):c.111C>T (p.Phe37=) rs547321451 0.00001
NM_001083116.3(PRF1):c.*139C>A rs56743633
NM_001083116.3(PRF1):c.*139C>T rs56743633
NM_001083116.3(PRF1):c.*89C>T rs6480459
NM_001083116.3(PRF1):c.434T>C (p.Val145Ala) rs535296791
NM_001083116.3(PRF1):c.519G>C (p.Thr173=) rs112883709

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