ClinVar Miner

List of variants reported as uncertain significance for congenital bilateral absence of vas deferens by Genome-Nilou Lab

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 23
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HGVS dbSNP gnomAD frequency
NM_000492.4(CFTR):c.1584G>A (p.Glu528=) rs1800095 0.01670
NM_000492.4(CFTR):c.1727G>C (p.Gly576Ala) rs1800098 0.00519
NM_000492.4(CFTR):c.958T>G (p.Leu320Val) rs144476686 0.00043
NM_000492.4(CFTR):c.2620-6T>C rs371315682 0.00038
NM_000492.4(CFTR):c.1920T>C (p.Phe640=) rs145877746 0.00036
NM_000492.4(CFTR):c.1679+16T>C rs397508262 0.00013
NM_000492.4(CFTR):c.137C>T (p.Ala46Val) rs151020603 0.00009
NM_000492.4(CFTR):c.1679+18G>A rs369294289 0.00006
NM_000492.4(CFTR):c.2769C>T (p.Ala923=) rs1800108 0.00006
NM_000492.4(CFTR):c.1679+9C>G rs775440240 0.00004
NM_000492.4(CFTR):c.1518C>A (p.Ile506=) rs1800092 0.00002
NM_000492.4(CFTR):c.627A>G (p.Ala209=) rs397508773 0.00002
NM_000492.4(CFTR):c.1545T>C (p.Tyr515=) rs747504631 0.00001
NM_000492.4(CFTR):c.1724T>A (p.Phe575Tyr) rs773569201 0.00001
NM_000492.4(CFTR):c.436C>T (p.His146Tyr) rs1798856136 0.00001
NM_000492.4(CFTR):c.1602A>G (p.Ala534=) rs1584810152
NM_000492.4(CFTR):c.164+9A>T rs397508245
NM_000492.4(CFTR):c.184G>A (p.Ala62Thr) rs1584776330
NM_000492.4(CFTR):c.2252G>T (p.Arg751Leu) rs397508357
NM_000492.4(CFTR):c.593C>T (p.Ala198Val) rs73215910
NM_000492.4(CFTR):c.646T>C (p.Trp216Arg) rs1562890551
NM_000492.4(CFTR):c.682G>T (p.Gly228Cys) rs1435574279
NM_000492.4(CFTR):c.92G>A (p.Arg31His) rs149353983

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