ClinVar Miner

List of variants in gene P3H1 studied for not specified

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Total variants: 38
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HGVS dbSNP gnomAD frequency
NM_022356.4(P3H1):c.2055+17C>T rs67014447 0.06792
NM_022356.4(P3H1):c.1915-20T>G rs3738498 0.06305
NM_022356.4(P3H1):c.1045G>A (p.Gly349Arg) rs6700677 0.06024
NM_022356.4(P3H1):c.1647G>A (p.Met549Ile) rs11581921 0.05897
NM_022356.4(P3H1):c.139G>T (p.Ala47Ser) rs55716016 0.04262
NM_022356.4(P3H1):c.1284C>T (p.Ile428=) rs61746642 0.01592
NM_022356.4(P3H1):c.1026C>T (p.Ala342=) rs61100157 0.01581
NM_022356.4(P3H1):c.1569+3A>G rs76871760 0.01579
NM_022356.4(P3H1):c.1812C>T (p.Pro604=) rs34809608 0.01577
NM_022356.4(P3H1):c.978C>T (p.Thr326=) rs74070022 0.01251
NM_022356.4(P3H1):c.1233G>A (p.Arg411=) rs61746653 0.01103
NM_022356.4(P3H1):c.611C>A (p.Pro204His) rs77208721 0.00751
NM_022356.4(P3H1):c.940+90A>G rs114545255 0.00700
NM_022356.4(P3H1):c.-45C>T rs183564323 0.00663
NM_022356.4(P3H1):c.1716C>T (p.Ile572=) rs35500164 0.00563
NM_022356.4(P3H1):c.1322A>G (p.Asp441Gly) rs113593896 0.00341
NM_022356.4(P3H1):c.1473+5G>T rs114044880 0.00294
NM_022356.4(P3H1):c.1529A>G (p.Asn510Ser) rs149894086 0.00092
NM_022356.4(P3H1):c.2147G>C (p.Gly716Ala) rs573577299 0.00068
NM_022356.4(P3H1):c.693G>A (p.Ala231=) rs149113630 0.00027
NM_022356.4(P3H1):c.1761C>T (p.His587=) rs148338728 0.00024
NM_022356.4(P3H1):c.1425C>T (p.Asp475=) rs373467876 0.00019
NM_022356.4(P3H1):c.1071C>T (p.Gly357=) rs202234531 0.00014
NM_022356.4(P3H1):c.327C>T (p.Phe109=) rs370773974 0.00009
NM_022356.4(P3H1):c.2164C>A (p.Gln722Lys) rs771006240 0.00003
NM_022356.4(P3H1):c.1231C>T (p.Arg411Trp) rs146128481 0.00002
NM_022356.4(P3H1):c.148G>A (p.Asp50Asn) rs375176399 0.00001
NM_022356.4(P3H1):c.420C>T (p.Phe140=) rs1027100537 0.00001
NM_001243246.2(P3H1):c.2068_2086dup (p.Trp696delinsSerSerGlyTer)
NM_022356.4(P3H1):c.*4_*10del rs767524042
NM_022356.4(P3H1):c.1080+3G>C
NM_022356.4(P3H1):c.1170G>A (p.Pro390=)
NM_022356.4(P3H1):c.1345G>A (p.Gly449Ser)
NM_022356.4(P3H1):c.2055+13C>G rs76628300
NM_022356.4(P3H1):c.2148= (p.Gly716=) rs4660662
NM_022356.4(P3H1):c.619-5A>C rs1057523341
NM_022356.4(P3H1):c.808+5G>A rs368972030
NM_022356.4(P3H1):c.808+9A>T rs1553143084

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