ClinVar Miner

List of variants in gene CRTAP, LOC129936436 studied for bone disorder

Included ClinVar conditions (1436):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 57
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HGVS dbSNP gnomAD frequency
NM_006371.4(CRTAP):c.-101G>C rs189698814 0.00300
NM_006371.5(CRTAP):c.49G>A (p.Val17Met) rs200576259 0.00025
NM_006371.5(CRTAP):c.-35C>T rs567359532 0.00010
NM_006371.5(CRTAP):c.39G>T (p.Ala13=) rs774113733 0.00010
NM_006371.5(CRTAP):c.13C>A (p.Arg5Ser) rs758652009 0.00007
NM_006371.5(CRTAP):c.62T>G (p.Leu21Arg) rs775265156 0.00005
NM_006371.5(CRTAP):c.27G>A (p.Ala9=) rs748214555 0.00002
NM_006371.4(CRTAP):c.-119G>A rs900256700 0.00001
NM_006371.4(CRTAP):c.-83G>A rs890031275 0.00001
NM_006371.4(CRTAP):c.-88C>T rs549258892 0.00001
NM_006371.5(CRTAP):c.17G>T (p.Arg6Leu) rs780490905 0.00001
NM_006371.5(CRTAP):c.20G>C (p.Gly7Ala) rs886044235 0.00001
NM_006371.5(CRTAP):c.21G>A (p.Gly7=) rs747170148 0.00001
NM_006371.5(CRTAP):c.23C>T (p.Ala8Val) rs770294468 0.00001
NM_006371.5(CRTAP):c.24C>T (p.Ala8=) rs781622392 0.00001
NM_006371.5(CRTAP):c.2T>C (p.Met1Thr) rs2471560599 0.00001
NM_006371.5(CRTAP):c.38C>A (p.Ala13Glu) rs137853938 0.00001
NM_006371.5(CRTAP):c.63G>C (p.Leu21=) rs775904940 0.00001
NM_006371.5(CRTAP):c.8C>A (p.Pro3Gln) rs1238368716 0.00001
NM_006371.5(CRTAP):c.16C>A (p.Arg6=) rs1701306755
NM_006371.5(CRTAP):c.18G>C (p.Arg6=) rs1333081449
NM_006371.5(CRTAP):c.18G>T (p.Arg6=) rs1333081449
NM_006371.5(CRTAP):c.18_25del (p.Ala10fs) rs1701306659
NM_006371.5(CRTAP):c.18_25dup (p.Ala9fs) rs1701306659
NM_006371.5(CRTAP):c.18_33del (p.Arg6_Gly7insTer) rs752412772
NM_006371.5(CRTAP):c.22del (p.Ala8fs) rs137853936
NM_006371.5(CRTAP):c.22dup (p.Ala8fs) rs137853936
NM_006371.5(CRTAP):c.24C>G (p.Ala8=) rs781622392
NM_006371.5(CRTAP):c.24_31del (p.Ala10fs) rs74315154
NM_006371.5(CRTAP):c.27G>C (p.Ala9=) rs748214555
NM_006371.5(CRTAP):c.29C>T (p.Ala10Val) rs769955892
NM_006371.5(CRTAP):c.32T>C (p.Leu11Pro) rs1701307738
NM_006371.5(CRTAP):c.34C>T (p.Leu12=) rs2471560806
NM_006371.5(CRTAP):c.35T>C (p.Leu12Pro) rs2471560809
NM_006371.5(CRTAP):c.36A>G (p.Leu12=) rs1575512623
NM_006371.5(CRTAP):c.36_44dup (p.10ALL[3]) rs777594626
NM_006371.5(CRTAP):c.39G>A (p.Ala13=) rs774113733
NM_006371.5(CRTAP):c.3G>A (p.Met1Ile) rs72659357
NM_006371.5(CRTAP):c.40C>G (p.Leu14Val) rs909805285
NM_006371.5(CRTAP):c.41_59dup (p.Leu21fs) rs2471560813
NM_006371.5(CRTAP):c.42G>A (p.Leu14=) rs2471560837
NM_006371.5(CRTAP):c.44_64dup (p.Leu15_Leu21dup) rs1701307846
NM_006371.5(CRTAP):c.45G>A (p.Leu15=) rs1242267650
NM_006371.5(CRTAP):c.4G>C (p.Glu2Gln) rs1701306171
NM_006371.5(CRTAP):c.50T>A (p.Val17Glu) rs1701308393
NM_006371.5(CRTAP):c.50_74del (p.Val17fs)
NM_006371.5(CRTAP):c.57C>A (p.Cys19Ter) rs2471560885
NM_006371.5(CRTAP):c.57C>T (p.Cys19=) rs2471560885
NM_006371.5(CRTAP):c.58G>A (p.Ala20Thr) rs2471560891
NM_006371.5(CRTAP):c.58_59insGGCTGCG (p.Ala20fs)
NM_006371.5(CRTAP):c.60G>T (p.Ala20=) rs1393255225
NM_006371.5(CRTAP):c.62_77del (p.Leu21fs) rs1701308701
NM_006371.5(CRTAP):c.62_77dup (p.Gln27fs)
NM_006371.5(CRTAP):c.66C>A (p.Arg22=)
NM_006371.5(CRTAP):c.6G>A (p.Glu2=) rs13090149
NM_006371.5(CRTAP):c.8del (p.Pro3fs) rs1701306294
NM_006371.5(CRTAP):c.9G>A (p.Pro3=) rs1701306394

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