ClinVar Miner

Variants from Institute of Reproductive Genetics, University of Münster

Location: Germany  Primary collection method: research
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:

If a variant has more than one submission, it may be counted in more than one significance column. If this is the case, the total number of variants will be less than the sum of the other cells.

pathogenic likely pathogenic uncertain significance likely benign benign total
42 47 43 5 0 131

Gene and significance breakdown #

Total genes and gene combinations: 36
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign total
AR 6 7 10 0 22
CFTR 9 2 2 1 14
TEX14 6 2 4 0 12
TRIM71 0 1 8 2 11
NR5A1 1 7 3 0 9
TEX15 1 0 5 1 7
M1AP 1 0 5 0 6
FKBP6 2 3 0 0 5
DDX3Y 0 4 0 0 4
MSH4 0 4 0 0 4
CFTR, LOC111674472 3 0 0 0 3
MSH5, MSH5-SAPCD1 2 1 0 0 3
SPOCD1 0 3 0 0 3
SYCP2 3 3 0 0 3
KLHL10 0 0 2 0 2
RXFP2 1 1 0 0 2
STAG3 0 2 0 0 2
ADAD2, LOC126862424, LOC654780 1 0 0 0 1
ADGRG2 1 0 0 0 1
AR, LOC109504725 0 1 0 0 1
CFTR, LOC113664106, LOC113664107 1 0 0 0 1
DMRT1 0 1 0 0 1
DMRT1, LOC130001446 0 0 1 0 1
DNMT3B 0 0 1 0 1
GCNA 0 1 0 0 1
INSL3 0 1 0 0 1
MCM9 0 1 0 0 1
MON1B, SYCE1L 0 0 0 1 1
RAD21L1 1 0 0 0 1
REC8 0 0 1 0 1
RNF212 0 0 1 0 1
SHOC1 1 0 0 0 1
SPO11 0 1 0 0 1
TERB1 1 0 0 0 1
TERB2 0 1 0 0 1
ZMYND15 1 0 0 0 1

Condition and significance breakdown #

Total conditions: 8
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Condition pathogenic likely pathogenic uncertain significance likely benign total
Non-obstructive azoospermia 21 21 25 4 71
Male infertility 8 15 13 0 36
Obstructive azoospermia 14 2 2 1 19
Cryptozoospermia 0 2 4 0 6
Bilateral cryptorchidism 1 2 0 0 3
Male infertility with azoospermia or oligozoospermia due to single gene mutation 0 3 0 0 3
Non-obstructive azoospermia; Spermatogenesis maturation arrest 0 2 0 0 2
Spermatocyte maturation arrest 0 1 0 0 1

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