ClinVar Miner

List of variants in gene PRDM16 reported as uncertain significance for Inborn genetic diseases

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Total variants: 28
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HGVS dbSNP gnomAD frequency
NM_022114.4(PRDM16):c.481A>G (p.Asn161Asp) rs374664141 0.00048
NM_022114.4(PRDM16):c.2741T>C (p.Met914Thr) rs201304831 0.00045
NM_022114.4(PRDM16):c.1706C>T (p.Thr569Met) rs200647136 0.00014
NM_022114.4(PRDM16):c.1574G>A (p.Arg525Gln) rs373011563 0.00013
NM_022114.4(PRDM16):c.2386G>A (p.Ala796Thr) rs367879720 0.00011
NM_022114.4(PRDM16):c.451C>G (p.Leu151Val) rs371021789 0.00008
NM_022114.4(PRDM16):c.3199G>A (p.Glu1067Lys) rs200946004 0.00006
NM_022114.4(PRDM16):c.76C>T (p.Arg26Trp) rs769704263 0.00006
NM_022114.4(PRDM16):c.2992G>A (p.Val998Ile) rs144180800 0.00004
NM_022114.4(PRDM16):c.490G>A (p.Gly164Arg) rs770235387 0.00004
NM_022114.4(PRDM16):c.3385G>T (p.Asp1129Tyr) rs776279865 0.00003
NM_022114.4(PRDM16):c.640G>A (p.Val214Ile) rs754256903 0.00003
NM_022114.4(PRDM16):c.1393C>G (p.Pro465Ala) rs763015619 0.00002
NM_022114.4(PRDM16):c.1441G>A (p.Ala481Thr) rs377240759 0.00002
NM_022114.4(PRDM16):c.1715C>A (p.Ala572Asp) rs750914621 0.00002
NM_022114.4(PRDM16):c.1745G>A (p.Arg582His) rs529401311 0.00002
NM_022114.4(PRDM16):c.866T>C (p.Met289Thr) rs765044618 0.00001
NM_022114.4(PRDM16):c.1354A>C (p.Thr452Pro)
NM_022114.4(PRDM16):c.1789G>C (p.Asp597His)
NM_022114.4(PRDM16):c.1834G>A (p.Gly612Arg)
NM_022114.4(PRDM16):c.1993G>A (p.Val665Met)
NM_022114.4(PRDM16):c.2236G>A (p.Ala746Thr) rs375259092
NM_022114.4(PRDM16):c.2595dup (p.Ile866fs) rs1643715509
NM_022114.4(PRDM16):c.3190C>T (p.Leu1064Phe)
NM_022114.4(PRDM16):c.3451G>A (p.Ala1151Thr)
NM_022114.4(PRDM16):c.481A>T (p.Asn161Tyr) rs374664141
NM_022114.4(PRDM16):c.493G>A (p.Ala165Thr)
NM_022114.4(PRDM16):c.71C>A (p.Pro24His)

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