ClinVar Miner

List of variants in gene combination CRTAP, LOC129936436 reported as uncertain significance for bone development disease

Included ClinVar conditions (588):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 23
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HGVS dbSNP gnomAD frequency
NM_006371.4(CRTAP):c.-101G>C rs189698814 0.00309
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.23C>T (p.Ala8Val) rs770294468 0.00002
NM_006371.4(CRTAP):c.-119G>A rs900256700 0.00001
NM_006371.4(CRTAP):c.-88C>T rs549258892 0.00001
NM_006371.5(CRTAP):c.-35C>T rs567359532 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.38C>A (p.Ala13Glu) rs137853938 0.00001
NM_006371.4(CRTAP):c.-83G>A rs890031275
NM_006371.5(CRTAP):c.16C>A (p.Arg6=) rs1701306755
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.35T>C (p.Leu12Pro)
NM_006371.5(CRTAP):c.36_44dup (p.10ALL[3]) rs777594626
NM_006371.5(CRTAP):c.40C>G (p.Leu14Val) rs909805285
NM_006371.5(CRTAP):c.44_64dup (p.Leu15_Leu21dup) rs1701307846
NM_006371.5(CRTAP):c.4G>C (p.Glu2Gln)
NM_006371.5(CRTAP):c.50T>A (p.Val17Glu) rs1701308393
NM_006371.5(CRTAP):c.58G>A (p.Ala20Thr)
NM_006371.5(CRTAP):c.60G>T (p.Ala20=) rs1393255225
NM_006371.5(CRTAP):c.8C>A (p.Pro3Gln)

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