ClinVar Miner

List of variants studied for Treacher-Collins syndrome by OMIM

Included ClinVar conditions (7):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 26
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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 0.00006
NM_203290.4(POLR1C):c.979A>T (p.Lys327Ter) rs387907020 0.00001
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_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

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