ClinVar Miner

List of variants in gene PRF1 reported by OMIM

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Total variants: 16
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HGVS dbSNP gnomAD frequency
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.755A>G (p.Asn252Ser) rs28933375 0.00756
NM_001083116.3(PRF1):c.50del (p.Leu17fs) rs147035858 0.00100
NM_001083116.3(PRF1):c.1122G>A (p.Trp374Ter) rs104894176 0.00003
NM_001083116.3(PRF1):c.836G>A (p.Cys279Tyr) rs104894182 0.00002
NM_001083116.3(PRF1):c.1090_1091del (p.Leu364fs) rs771552960 0.00001
NM_001083116.3(PRF1):c.1304C>T (p.Thr435Met) rs28933376 0.00001
NM_001083116.3(PRF1):c.673C>T (p.Arg225Trp) rs28933973 0.00001
NM_001083116.3(PRF1):c.1034C>T (p.Pro345Leu) rs28933374
NM_001083116.3(PRF1):c.1163G>T (p.Ser388Ile) rs193302875
NM_001083116.3(PRF1):c.1246C>T (p.Gln416Ter) rs193302876
NM_001083116.3(PRF1):c.1286G>A (p.Gly429Glu) rs104894181
NM_001083116.3(PRF1):c.190C>T (p.Gln64Ter) rs104894180
NM_001083116.3(PRF1):c.207del (p.Asp70fs) rs786205093
NM_001083116.3(PRF1):c.548T>G (p.Val183Gly) rs104894183

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