ClinVar Miner

List of variants in gene TH reported as likely benign by Natera, Inc.

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 34
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HGVS dbSNP gnomAD frequency
NM_000360.4(TH):c.1398C>T (p.Ile466=) rs118175546 0.00056
NM_000360.4(TH):c.897C>T (p.Phe299=) rs76719766 0.00054
NM_000360.4(TH):c.363G>A (p.Pro121=) rs370429316 0.00042
NM_000360.4(TH):c.1255G>A (p.Val419Met) rs184106392 0.00034
NM_000360.4(TH):c.91-891G>A rs371277838 0.00029
NM_000360.4(TH):c.91-896G>A rs376736869 0.00012
NM_000360.4(TH):c.1383G>A (p.Pro461=) rs552808212 0.00011
NM_000360.4(TH):c.51C>T (p.Ala17=) rs199645400 0.00009
NM_000360.4(TH):c.1476G>A (p.Ala492=) rs146945950 0.00007
NM_000360.4(TH):c.240C>T (p.Ala80=) rs371658705 0.00007
NM_000360.4(TH):c.252G>A (p.Leu84=) rs758016812 0.00007
NM_000360.4(TH):c.1228C>A (p.Arg410=) rs575326605 0.00006
NM_000360.4(TH):c.362C>T (p.Pro121Leu) rs760017478 0.00006
NM_000360.4(TH):c.192C>T (p.Pro64=) rs767080132 0.00005
NM_000360.4(TH):c.678C>T (p.Ala226=) rs139619260 0.00005
NM_000360.4(TH):c.132C>T (p.Asp44=) rs767310984 0.00004
NM_000360.4(TH):c.1470C>G (p.Ala490=) rs777477661 0.00004
NM_000360.4(TH):c.24G>A (p.Thr8=) rs529205525 0.00004
NM_000360.4(TH):c.*8G>C rs761910662 0.00003
NM_000360.4(TH):c.1377C>T (p.Phe459=) rs575305786 0.00002
NM_000360.4(TH):c.1422C>T (p.Ala474=) rs375735482 0.00002
NM_000360.4(TH):c.288G>C (p.Leu96=) rs151082354 0.00002
NM_000360.4(TH):c.1128C>T (p.Phe376=) rs769329337 0.00001
NM_000360.4(TH):c.1334+9G>A rs758713265 0.00001
NM_000360.4(TH):c.582C>A (p.Phe194Leu) rs555133070 0.00001
NM_000360.4(TH):c.644+10C>T rs760886341 0.00001
NM_000360.4(TH):c.648C>T (p.Gly216=) rs774810612 0.00001
NM_000360.4(TH):c.96G>A (p.Pro32=) rs202167640 0.00001
NM_000360.4(TH):c.1105-5C>G rs535794692
NM_000360.4(TH):c.1170C>G (p.Ala390=) rs199839852
NM_000360.4(TH):c.1188C>T (p.Tyr396=) rs375428556
NM_000360.4(TH):c.576+8G>T rs372753775
NM_000360.4(TH):c.81G>A (p.Glu27=) rs139742336
NM_000360.4(TH):c.81G>T (p.Glu27Asp) rs139742336

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