List of variants in gene EBP studied for Chondrodysplasia punctata 2 X-linked dominant

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 51

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HGVS	dbSNP	gnomAD frequency
NM_006579.3(EBP):c.15G>T (p.Ala5=)	rs3048	0.28803
NM_006579.3(EBP):c.382C>T (p.Leu128=)	rs142881014	0.00291
NM_006579.3(EBP):c.511C>T (p.Arg171Cys)	rs141925556	0.00064
NM_006579.3(EBP):c.141G>T (p.Trp47Cys)	rs587783599
NM_006579.3(EBP):c.182G>A (p.Trp61Ter)	rs587783600
NM_006579.3(EBP):c.184C>T (p.Arg62Trp)	rs372974717
NM_006579.3(EBP):c.187C>T (p.Arg63Ter)	rs104894799
NM_006579.3(EBP):c.201_203dup (p.Cys67dup)	rs797045542
NM_006579.3(EBP):c.203G>A (p.Trp68Ter)	rs2061771803
NM_006579.3(EBP):c.204G>T (p.Trp68Cys)	rs587783601
NM_006579.3(EBP):c.206T>G (p.Phe69Cys)	rs2147154702
NM_006579.3(EBP):c.214T>C (p.Cys72Arg)	rs587783602
NM_006579.3(EBP):c.218G>A (p.Gly73Glu)	rs587783603
NM_006579.3(EBP):c.225dup (p.His76fs)	rs797045543
NM_006579.3(EBP):c.238G>A (p.Glu80Lys)	rs104894800
NM_006579.3(EBP):c.261C>G (p.Tyr87Ter)	rs145509273
NM_006579.3(EBP):c.278A>T (p.Asp93Val)
NM_006579.3(EBP):c.292_296del (p.Ser98fs)	rs587783604
NM_006579.3(EBP):c.299T>C (p.Leu100Pro)	rs587783605
NM_006579.3(EBP):c.301+2T>A	rs587783606
NM_006579.3(EBP):c.303G>T (p.Trp101Cys)	rs587783607
NM_006579.3(EBP):c.304A>T (p.Lys102Ter)	rs587783608
NM_006579.3(EBP):c.310T>C (p.Tyr104His)	rs587783609
NM_006579.3(EBP):c.311A>G (p.Tyr104Cys)	rs587783610
NM_006579.3(EBP):c.312T>A (p.Tyr104Ter)
NM_006579.3(EBP):c.314C>A (p.Ala105Asp)	rs587783611
NM_006579.3(EBP):c.320G>A (p.Gly107Glu)	rs587783612
NM_006579.3(EBP):c.328C>T (p.Arg110Ter)	rs587783613
NM_006579.3(EBP):c.329G>A (p.Arg110Gln)	rs1602090481
NM_006579.3(EBP):c.329_332dup (p.Tyr111Ter)	rs797045544
NM_006579.3(EBP):c.331T>C (p.Tyr111His)	rs587783614
NM_006579.3(EBP):c.338+1G>C	rs1569479885
NM_006579.3(EBP):c.338+1G>T	rs1569479885
NM_006579.3(EBP):c.369_379delinsAG (p.Ile124_Cys127delinsGly)	rs797045545
NM_006579.3(EBP):c.386G>A (p.Trp129Ter)	rs104894792
NM_006579.3(EBP):c.390del (p.Pro131fs)	rs1569479901
NM_006579.3(EBP):c.423_427delinsT (p.Arg142fs)	rs797045546
NM_006579.3(EBP):c.440G>A (p.Arg147His)	rs28935174
NM_006579.3(EBP):c.464_465del (p.Ser155fs)	rs587783615
NM_006579.3(EBP):c.470-3C>G
NM_006579.3(EBP):c.480T>G (p.Tyr160Ter)	rs587783616
NM_006579.3(EBP):c.481G>A (p.Gly161Arg)	rs587783617
NM_006579.3(EBP):c.484dup (p.Asp162fs)	rs797045547
NM_006579.3(EBP):c.506_507del (p.Glu169fs)	rs1602091152
NM_006579.3(EBP):c.523C>T (p.Gln175Ter)	rs104894793
NM_006579.3(EBP):c.527A>G (p.His176Arg)	rs587783618
NM_006579.3(EBP):c.586_587insA (p.Trp196Ter)	rs1569480016
NM_006579.3(EBP):c.587G>A (p.Trp196Ter)	rs104894794
NM_006579.3(EBP):c.632T>G (p.Leu211Arg)	rs587783619
NM_006579.3(EBP):c.684GAA[1] (p.Lys229del)	rs587783620
NM_006579.3(EBP):c.87G>A (p.Trp29Ter)	rs104894798

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