ClinVar Miner

List of variants in gene HIVEP2 reported as uncertain significance for Inborn genetic diseases

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Total variants: 51
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HGVS dbSNP gnomAD frequency
NM_006734.4(HIVEP2):c.4730A>T (p.Asp1577Val) rs1291901438 0.00002
NM_006734.4(HIVEP2):c.4550C>T (p.Ser1517Leu) rs1004404974 0.00001
NM_006734.4(HIVEP2):c.5132A>T (p.His1711Leu) rs751091645 0.00001
NM_006734.4(HIVEP2):c.967A>G (p.Met323Val) rs1473641774 0.00001
NM_006734.4(HIVEP2):c.1205C>G (p.Ser402Cys) rs1775612162
NM_006734.4(HIVEP2):c.1253C>G (p.Ala418Gly)
NM_006734.4(HIVEP2):c.1309G>T (p.Ala437Ser)
NM_006734.4(HIVEP2):c.131G>C (p.Gly44Ala) rs1230993811
NM_006734.4(HIVEP2):c.1522A>T (p.Ile508Phe) rs770827886
NM_006734.4(HIVEP2):c.1619T>G (p.Leu540Arg)
NM_006734.4(HIVEP2):c.1850G>C (p.Gly617Ala)
NM_006734.4(HIVEP2):c.1934A>G (p.Tyr645Cys)
NM_006734.4(HIVEP2):c.1969A>C (p.Asn657His)
NM_006734.4(HIVEP2):c.2050_2052dup (p.Val684_Pro685insVal)
NM_006734.4(HIVEP2):c.2092C>T (p.Arg698Trp) rs773953121
NM_006734.4(HIVEP2):c.2248C>A (p.Leu750Ile)
NM_006734.4(HIVEP2):c.2333C>T (p.Pro778Leu)
NM_006734.4(HIVEP2):c.2426G>A (p.Ser809Asn)
NM_006734.4(HIVEP2):c.2449T>A (p.Ser817Thr)
NM_006734.4(HIVEP2):c.2456C>T (p.Ser819Leu) rs1554276784
NM_006734.4(HIVEP2):c.2461G>A (p.Glu821Lys)
NM_006734.4(HIVEP2):c.2488G>A (p.Ala830Thr)
NM_006734.4(HIVEP2):c.2588C>A (p.Pro863His)
NM_006734.4(HIVEP2):c.2698C>T (p.Pro900Ser)
NM_006734.4(HIVEP2):c.3085C>T (p.Arg1029Cys)
NM_006734.4(HIVEP2):c.3278C>A (p.Ser1093Tyr)
NM_006734.4(HIVEP2):c.3383C>T (p.Pro1128Leu)
NM_006734.4(HIVEP2):c.3475A>C (p.Met1159Leu)
NM_006734.4(HIVEP2):c.3581A>C (p.Glu1194Ala)
NM_006734.4(HIVEP2):c.3666G>C (p.Gln1222His)
NM_006734.4(HIVEP2):c.3697C>T (p.Pro1233Ser)
NM_006734.4(HIVEP2):c.386C>T (p.Pro129Leu)
NM_006734.4(HIVEP2):c.4465C>T (p.Arg1489Cys) rs768721723
NM_006734.4(HIVEP2):c.4472A>G (p.Gln1491Arg)
NM_006734.4(HIVEP2):c.4685G>A (p.Ser1562Asn)
NM_006734.4(HIVEP2):c.478C>G (p.Pro160Ala)
NM_006734.4(HIVEP2):c.4829G>T (p.Arg1610Leu)
NM_006734.4(HIVEP2):c.497C>A (p.Ser166Tyr)
NM_006734.4(HIVEP2):c.502A>C (p.Lys168Gln)
NM_006734.4(HIVEP2):c.5033G>C (p.Cys1678Ser)
NM_006734.4(HIVEP2):c.5077C>T (p.Leu1693Phe)
NM_006734.4(HIVEP2):c.5132A>G (p.His1711Arg)
NM_006734.4(HIVEP2):c.59A>G (p.Asp20Gly)
NM_006734.4(HIVEP2):c.6247T>C (p.Ser2083Pro)
NM_006734.4(HIVEP2):c.6269C>T (p.Pro2090Leu)
NM_006734.4(HIVEP2):c.6376A>G (p.Arg2126Gly)
NM_006734.4(HIVEP2):c.6463C>T (p.Pro2155Ser)
NM_006734.4(HIVEP2):c.64G>A (p.Ala22Thr)
NM_006734.4(HIVEP2):c.7087G>A (p.Gly2363Arg)
NM_006734.4(HIVEP2):c.861A>C (p.Leu287Phe)
NM_006734.4(HIVEP2):c.977C>T (p.Pro326Leu)

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