ClinVar Miner

List of variants in gene NR1H4 reported by Eurofins NTD LLC (GA)

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Gene type:
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Total variants: 41
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HGVS dbSNP gnomAD frequency
NM_001206979.2(NR1H4):c.-1G>T rs56163822 0.02608
NM_001206979.2(NR1H4):c.518T>C (p.Met173Thr) rs61755050 0.00371
NM_001206979.2(NR1H4):c.732+6A>G rs183902004 0.00113
NM_001206979.2(NR1H4):c.18T>C (p.Asn6=) rs140648896 0.00063
NM_001206979.2(NR1H4):c.1072A>C (p.Asn358His) rs149287629 0.00035
NM_001206979.2(NR1H4):c.655C>T (p.His219Tyr) rs189042762 0.00027
NM_001206979.2(NR1H4):c.1A>G (p.Met1Val) rs138943609 0.00026
NM_001206979.2(NR1H4):c.438G>A (p.Gly146=) rs137946171 0.00023
NM_001206979.2(NR1H4):c.658G>T (p.Ala220Ser) rs180957965 0.00017
NM_001206979.2(NR1H4):c.1245T>C (p.Leu415=) rs368975126 0.00010
NM_001206979.2(NR1H4):c.795C>T (p.Asn265=) rs147030757 0.00009
NM_001206979.2(NR1H4):c.1359G>T (p.Glu453Asp) rs371932662 0.00007
NM_001206979.2(NR1H4):c.268C>T (p.Arg90Cys) rs150295715 0.00007
NM_001206979.2(NR1H4):c.107C>T (p.Pro36Leu) rs764996783 0.00006
NM_001206979.2(NR1H4):c.345C>T (p.Gly115=) rs372358310 0.00005
NM_001206979.2(NR1H4):c.302C>T (p.Thr101Ile) rs200146597 0.00004
NM_001206979.2(NR1H4):c.963T>C (p.Ile321=) rs757460153 0.00004
NM_001206979.2(NR1H4):c.1079-8C>T rs764238006 0.00003
NM_001206979.2(NR1H4):c.984G>A (p.Ala328=) rs772488925 0.00003
NM_001206979.2(NR1H4):c.1319G>A (p.Arg440His) rs750672942 0.00001
NM_001206979.2(NR1H4):c.1322T>C (p.Leu441Pro) rs745674560 0.00001
NM_001206979.2(NR1H4):c.1353C>T (p.His451=) rs574925287 0.00001
NM_001206979.2(NR1H4):c.1376G>A (p.Arg459Lys) rs751862206 0.00001
NM_001206979.2(NR1H4):c.147C>T (p.Tyr49=) rs1395828484 0.00001
NM_001206979.2(NR1H4):c.445+5G>A rs772766411 0.00001
NM_001206979.2(NR1H4):c.479T>C (p.Val160Ala) rs1165489383 0.00001
NM_001206979.2(NR1H4):c.725C>T (p.Ser242Leu) rs764421287 0.00001
NM_001206979.2(NR1H4):c.1106T>C (p.Met369Thr) rs1565788688
NM_001206979.2(NR1H4):c.1174A>G (p.Ile392Val) rs1565788794
NM_001206979.2(NR1H4):c.141G>T (p.Ser47=) rs148156024
NM_001206979.2(NR1H4):c.428C>T (p.Thr143Ile) rs1566445307
NM_001206979.2(NR1H4):c.547C>T (p.Arg183Ter) rs1555335324
NM_001206979.2(NR1H4):c.588T>C (p.Cys196=) rs1566461978
NM_001206979.2(NR1H4):c.733-2A>G rs1566464880
NM_001206979.2(NR1H4):c.740C>T (p.Thr247Ile) rs776814580
NM_001206979.2(NR1H4):c.750C>T (p.Thr250=) rs1322754256
NM_001206979.2(NR1H4):c.831+1G>A rs1555335782
NM_001206979.2(NR1H4):c.893A>G (p.His298Arg) rs886042563
NM_001206979.2(NR1H4):c.900G>A (p.Gln300=) rs1555335820
NM_001206979.2(NR1H4):c.923dup (p.Leu309fs) rs770757947
NM_001206979.2(NR1H4):c.933A>T (p.Gly311=) rs1566467890

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