ClinVar Miner

List of variants studied for mandibulofacial dysostosis by OMIM

Included ClinVar conditions (17):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 48
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_203290.4(POLR1C):c.836G>A (p.Arg279Gln) rs191582628 0.00010
NM_203290.4(POLR1C):c.835C>T (p.Arg279Trp) rs141156009 0.00008
NM_203290.4(POLR1C):c.979A>T (p.Lys327Ter) rs387907020 0.00001
NM_000503.6(EYA1):c.639+1G>A rs869025180
NM_001104631.2(PDE4D):c.1759A>C (p.Thr587Pro) rs397514467
NM_001104631.2(PDE4D):c.1952A>C (p.Glu651Ala) rs387906744
NM_001104631.2(PDE4D):c.2018G>A (p.Gly673Asp) rs397514469
NM_001104631.2(PDE4D):c.2033T>C (p.Ile678Thr) rs587777188
NM_001104631.2(PDE4D):c.568T>G (p.Ser190Ala) rs397514466
NM_001104631.2(PDE4D):c.673C>A (p.Pro225Thr) rs397514464
NM_001104631.2(PDE4D):c.677T>C (p.Phe226Ser) rs397514465
NM_001104631.2(PDE4D):c.677T>G (p.Phe226Cys) rs397514465
NM_001104631.2(PDE4D):c.682C>G (p.Gln228Glu) rs397514468
NM_001104631.2(PDE4D):c.911C>T (p.Ala304Val) rs397515433
NM_001257096.2(PAX1):c.1104C>A (p.Cys368Ter) rs1158294764
NM_001257096.2(PAX1):c.1169_1173dup (p.Pro392fs) rs1555804780
NM_001257096.2(PAX1):c.439G>C (p.Val147Leu) rs1985007962
NM_001257096.2(PAX1):c.463_465del (p.Asn155del) rs1985008715
NM_001257096.2(PAX1):c.497G>T (p.Gly166Val) rs540296842
NM_001371623.1(TCOF1):c.149A>G (p.Tyr50Cys) rs28941769
NM_001371623.1(TCOF1):c.1637_1640del (p.Glu546fs) rs587776583
NM_001371623.1(TCOF1):c.1639_1640del (p.Ser547fs) rs587776583
NM_001371623.1(TCOF1):c.2962C>T (p.Arg988Ter) rs119470017
NM_001371623.1(TCOF1):c.3107dup (p.Ser1036fs) rs587777314
NM_001371623.1(TCOF1):c.376_378+15del rs587776584
NM_001371623.1(TCOF1):c.422dup (p.His141fs) rs587776580
NM_001371623.1(TCOF1):c.4368del (p.Glu1457fs) rs587776585
NM_001371623.1(TCOF1):c.4372_4376del (p.Lys1458fs) rs587776582
NM_001371623.1(TCOF1):c.497_500del (p.Asn166fs) rs587776581
NM_001371623.1(TCOF1):c.985C>T (p.Gln329Ter) rs119470016
NM_001957.4(EDNRA):c.386A>T (p.Tyr129Phe) rs786205230
NM_001957.4(EDNRA):c.907G>A (p.Glu303Lys) rs876657388
NM_002734.5(PRKAR1A):c.1004G>C (p.Arg335Pro) rs387906694
NM_002734.5(PRKAR1A):c.1102C>T (p.Arg368Ter) rs387906692
NM_002734.5(PRKAR1A):c.1117T>C (p.Tyr373His) rs387906693
NM_002734.5(PRKAR1A):c.980T>C (p.Ile327Thr) rs387906695
NM_015972.4(POLR1D):c.139G>A (p.Glu47Lys) rs767196650
NM_015972.4(POLR1D):c.152T>G (p.Leu51Arg) rs1593275448
NM_015972.4(POLR1D):c.163C>G (p.Leu55Val) rs587777841
NM_015972.4(POLR1D):c.259C>T (p.Arg87Ter) rs1593275599
NM_015972.4(POLR1D):c.262_263dup (p.Thr89fs) rs1593275616
NM_015972.4(POLR1D):c.326_327del (p.His109fs) rs2138519194
NM_015972.4(POLR1D):c.88_89dup (p.Gln31fs) rs1593275363
NM_019014.6(POLR1B):c.2046T>A (p.Ser682Arg) rs1684443250
NM_019014.6(POLR1B):c.3007C>A (p.Arg1003Ser) rs1684813071
NM_019014.6(POLR1B):c.3007C>T (p.Arg1003Cys) rs1684813071
NM_203290.4(POLR1C):c.87del (p.Gly31fs) rs2127686639
NM_203290.4(POLR1C):c.922+3_922+6del rs1335699710

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.